[Medline]. Metabolic crises can result in abnormal symmetric T2-hyperintensity of the basal ganglia, particularly the globi pallidi. The key cranial features of Chiari malformation type 2 are thought to result from a small posterior fossa caused by CSF leakage through the myelomeningocele. This is often secondary to mass lesions and is also commonly seen in the acute phase of intraventricular hemorrhage in premature infants. Sagittal cisternographic image shows high-grade stenosis (arrow) of sylvian aqueduct at level of superior colliculi resulting supratentorial hydrocephalus. 2A). In most cases it is obstructive and can be classified as intraventricular (obstructive) or extraventricular (communicating). Metabolic megalencephaly—Alexander disease is an autosomal dominant disease caused by mutations that result in accumulation of glial fibrillary acidic protein (GFAP) within astrocytes. Nevo Y, Kramer U, Shinnar S, Leitner Y, Fattal-Valevski A, Villa Y, et al. It is defined as an occipitofrontal circumference greater than 2 SD, or 0.5 cm above the 97th percentile. Journal Article, You are being redirected to In advanced cases, marked cerebral atrophy develops. Author information: (1)1 Russell H. Morgan Department of Radiology and Radiological Science, Johns Hopkins University School of Medicine, Baltimore, MD. Epidural hematomas in infants can cross cranial sutures, can occur without associated fracture, and are often due to venous injury [18]. Abusive head trauma—AHT usually occurs during the first year of life and is an important cause of long-term morbidity and mortality in children [15]. Sagittal T1-weighted MR image shows markedly dysplastic brainstem and shunted hydrocephalus. CONCLUSION. 563. nial pressure may lead to one of the typical. Lewis T, Lowe LH, Taylor C. Imaging Macrocephaly. Sometimes a large head means that there is a problem in the brain which might require surgery. At imaging, the torcular herophili and the tentorium are elevated and lie above the lambdoid suture (torcular-lambdoid inversion). An isolated SDH in a child with macrocephaly without other stigmata of abusive head trauma (AHT) suggests a posttraumatic state but should not necessarily lead to a presumptive diagnosis of child abuse [14]. In a wide spectrum of cases in childhood, macrocephaly does not carry a neurological risk, although a range of possibilities will have an impact on both the evolutionary and cognitive aspects of children. Ependymoma usually arises within the fourth ventricle and extends through the foramina of Luschka and Magendie with cisternal involvement. Differential Diagnosis & Pitfalls. In this review, a general overview is The Child With Macrocephaly: Differential Diagnosis and Neuroimaging Findings Emanuele Orr ù 1 Sonia F. Calloni2 Aylin Tekes3 Thierry A. G. M. Huisman3 Bruno P. Soares3 Orrù E, Calloni SF, Tekes A, Huisman TAGM, Soares BP 1Russell H. Morgan Department of Radiology and Radiological Science, Johns Hopkins University School of Medicine, Baltimore, MD. Axial CT image shows heterogeneous solid and cystic attenuation with mixed calcified and fat components. 2012. Author information: (1)1 Russell H. Morgan Department of Radiology and Radiological Science, Johns Hopkins University School of Medicine, Baltimore, MD. Macrocephaly is defined as head circumference more than two standard deviations (SDs) above the mean value for a given age and gender. Affected young adults may have a … 7B —Choroid plexus tumors resulting in hydrocephalus from overproduction of CSF. Fig. Choroid plexus carcinomas are large invasive tumors with a tendency to recur [54, 55]. As for the cases of macrocephaly that are due to bone abnormalities, we can find: – Macrocephaly due to an early closure of cranial sutures . November 15, 2017. Talk to our Chatbot to narrow down your search. Centers for Disease Control and Prevention. Enlarged left ventricle has characteristic shape with pointed anterior horn. View. (Courtesy of Martin KW, UCSF Benioff Children's Hospital, Oakland, CA). This website also contains material copyrighted by 3rd parties. 9B —Causes of metabolic megalencephaly. Differential Diagnosis. Appropriately encoded phase contrast images allow visualization of normal biphasic flow and facilitate quantitative assessment of CSF flow [8]. Classic features seen at fetal or neonatal MRI include persistence of the median prosencephalic vein, which appears as a large flow void on T2-weighted images, usually with dilated and tortuous choroidal and anterior cerebral artery feeders. Fig. 2A —Intrinsic and extrinsic aqueductal stenosis. In the acute phase, CT has usually been the mainstay modality because of its rapid acquisition and widespread availability. To keep the intracranial volume balanced, an increase in the size of one component causes a reduction in one or both of the other two [2]. Evaluation. Subscription Required. The bones of the cranium are divided into the skull base and the calvarial vault. Other CNS abnormalities may be present, such as heterotopia, polymicrogyria, schizencephaly, and callosal dysgenesis [40]. Mild restricted diffusion reflects high cellularity. 4A and 4B). AJR Am J Roentgenol. (Courtesy of Dupree B, Overton-Brooks VA Medical Center, Shreveport, LA). Alexander disease is one of a few neurometabolic disorders with specific MRI features (Fig. AU - Soares, Bruno P. PY - 2018/4. Fig. The highest prevalence is among Ashkenazi jewish. T2 - Differential diagnosis and neuroimaging findings. Abstract. Large arachnoid cysts may cause scalloping of the calvaria and supratentorial hydrocephalus if compressing the fourth ventricle. There also can be associated fusion of the quadrigeminal bodies and third nerve nuclei [33]. Show abstract. + + Macrocephaly is a commonly encountered entity in pediatric clinical practice, particularly in infants. 2007 Sep. 14 (3):128-35. Original Research. MR spectroscopic readout shows N-acetylaspartate (NAA) peak at 2 ppm (arrow) that is much higher than expected for age. The brain grows rapidly in utero and during the first three years of life. Extraventricular hydrocephalus results from impaired reabsorption of CSF at the level of the arachnoid granulations caused by either chronic accumulation of blood products or inflammatory scarring, that is, posthemorrhagic hydrocephalus or meningitis, respectively. Imaging of children is particularly challenging because of their occasional inability to cooperate and the need to establish an accurate diagnosis while limiting radiation exposure to a reasonable minimum [6]. Mansour N, Sobel L, Lee M, Larumbe J, Stelnicki E. A new method for the treatment of macrocephaly caused by hydrocephalus. The combination of SDH, retinal hemorrhage, and neurologic dysfunction is highly specific for AHT, also known as shaken-baby syndrome [16]. Pediatr Rev. If MRI is available, quick evaluation of ventricular caliber and intracranial anatomy can be performed without sedation with ultrafast T2-weighted sequences. 6A —Posterior fossa tumors presenting with macrocephaly. 848 AJR:210, April 2018. volumetric changes, and increased intracra-. Correspondingly, the size of the cranium of an infant born at term is 40 percent of adult size; by seven years, this increases to 90 percent.2 Term infants hav… 353. Axial T2-weighted MR image shows frontal white matter edema with halo of T2-hypointensity anterior to frontal horns (arrows) and symmetric swelling and abnormal signal intensity of caudate heads and ventral putamina. In the setting of trauma, it has high sensitivity and specificity for depicting blood products and fractures. Pulmonary Mucormycosis: Radiologic Features at Presentation and Over Time. In some cases, particularly if your child's development is delayed, your doctor may request tests such as a head CT scan or MRI and … 1C) [21]. 1A). Head ultrasound is the best imaging modality for monitoring hydrocephalus in the acute and subacute phases. The Child With Macrocephaly: Differential Diagnosis and Neuroimaging Findings, Review. A, 5-year-old boy with medulloblastoma. He or she will measure the circumference of your child's head, compare it with a growth chart, and remeasure and plot the growth at future visits. Children usually present as outpatients with a large head and normal to minimally delayed cognitive development [11]. The Child With Macrocephaly: Differential Diagnosis and Neuroimaging Findings. Benign enlargement of subarachnoid spaces—Benign enlargement of subarachnoid spaces is the most common cause of macrocephaly in infants, the prevalence being as high as 75% [9, 10]. Dandy-Walker malformation—Dandy-Walker malformation is characterized by a large posterior fossa with cystlike dilatation of the fourth ventricle and various degrees of cerebellar vermis hypoplasia (Fig. Imaging plays a central role in establishing a diagnosis and guiding management. Subscription Required. Teratomas constitute 26–50% of fetal intracranial neoplasms, and they can cause congenital hydrocephalus [46]. Macrocephaly diagnosis. Macrocephaly (or "big head") is a very common reason for referral to a pediatric neurosurgeon. Neonatal and juvenile variants, respectively more and less severe, have also been described [62]. Pediatric victims of AHT often but not always present in the acute phase of injury. This slightly differs from the term megalencephalywhich means an increase in the size of the brain parenchyma. Unilateral macrocephaly seems to be associated with poor outcomes. Coronal T2-weighted MR image shows enlarged left hemisphere with diffusely abnormal cortex and white matter. Macrocephaly is a common clinical finding in children. Macrocephaly is defined as a head circumference greater than three standard deviations (SDs) above the mean for age and sex. A, Second trimester female fetus with Chiari malformation type 2. People diagnosed with macrocephaly will have further testing done to determine if the syndrome is accompanied by any other disorders. Pediatr Radiol. Since the macrocephaly is likely to be the initial manifestation, the syndrome should be considered in the differential diagnosis of infants with unexplained macrocephaly. Since the macrocephaly is likely to be the initial manifestation, the syndrome should be considered in the differential diagnosis of infants with unexplained macrocephaly. Images obtained with blood-sensitive sequences such as T2*-weighted gradient-recalled echo and susceptibility-weighted imaging may show a round area of decreased signal intensity along the course of a stretched bridging vein, representing clot (“lollipop” or “tadpole” sign) [22]. Imaging shows symmetric enlargement of the subarachnoid spaces along the frontoparietal convexities and widening of the inter-hemispheric sulcus. AJP Rep. 2020 Jul; 10(3): e294–e299. Axial T2-weighted MR image shows marked widening of sylvian fissures and bilateral hyperintensity in dorsal putamina. Repeated hemorrhage can lead to formation of layers with variable signal intensity or attenuation related to blood products at different ages, with or without septations. L.H. It is not a condition in itself, but it may be a symptom of other conditions or complications in the brain. The spectrum may resemble that of a normally developed adult but is the opposite of the one of a healthy child of that age [66]. Subscription Required. National Center for Health Statistics. There are few studies on the characteristics of macrocephaly (MC) diagnosed during well child visits. Fig. Macrocephaly: Symptoms, Causes, Treatment. Fig. shape which will guide the differential diagnosis and the need for further investigations. Sumaira Nabi, MBBS, FCPS Consultant Neurologist and Senior Registrar, Department of Neurology, Pakistan Institute of Medical SciencesDisclosure: Nothing to disclose. Coronal T2-weighted MR image shows well-circumscribed lesion (arrow) in atrium of left lateral ventricle. Can have atrophy of the dermis and subcutis. Sagittal T1-weighted MR image shows macrocephaly with frontal bossing and supratentorial hydrocephalus with effacement of CSF spaces around foramen magnum (arrow). Aqueductal stenosis can be treated by endoscopic third ventriculostomy, and radiologic studies are essential for preoperative planning and follow-up [32]. Available at http://www.cdc.gov/growthcharts/clinical_charts.htm. At imaging, almost all patients have different degrees of myelomeningocele. There are various conditions that present as vascular malformation and hypertrophy of soft tissue or bone. Macrocephaly is defined as a head circumference which is greater than 2 standard deviations larger than the average for a given age and sex. Fifth Edition. Macrocephaly refers to an overly large head in infants. Tkachuk, O.O. The pons is flattened. Fungal and granulomatous meningitides are more likely to cause clinically significant hydrocephalus than are bacterial and viral infections [44]. For instance, DW images can show areas of acute infarction or hypercellularity, susceptibility-weighted images can show blood products, and high-resolution cisternographic sequences (e.g., fast imaging employing steady-state acquisition [FIESTA]) allow evaluation of CSF spaces in exquisite anatomic detail, a feature particularly useful for differentiating causes of hydrocephalus. 3B —Congenital hydrocephalus secondary to abnormalities of posterior fossa. NeuroPsychology. In the absence of clinical signs and symptoms, it can be difficult to determine when concern for underlying pathology is justified. Centers for Disease Control and Prevention. The head grows through to adulthood as is demonstrated in the head circumference charts (Figure 1 overleaf). Aqueductal stenosis may be a feature of complex brain malformations, including congenital muscular dystrophy (also known as dystroglycanopathy). Most of them do not have any pathologic intracranial abnormalities. 2002 Nov. 27 (5):363-8. It has been described in … Diffusion is restricted to a larger degree than in germinomas, and ADC values are markedly low [48]. Speckled calcifications are present in 25% of cases. Signs of direct impact are often lacking [17]. SDH results from injury to bridging veins secondary to a combination of acceleration and abrupt deceleration, shearing, and rotational forces. The stenosis can also be extrinsic, as from compression by an arachnoid or choroid plexus cyst (Fig. Death usually occurs in the second year of life, although some patients survive longer than 10 years [65]. Coronal T2-weighted MR image shows enlarged subarachnoid spaces with crossing bridging veins (arrows) without associated mass effect. brain herniation syndromes, potentially with. Macrocephaly is not a primary identifying characteristic but relative macrocephaly may be present. Common radiologic features of hydrocephalus include downward bowing of the floor of the third ventricle with enlargement of the anterior and posterior recesses, best seen on sagittal images; dilatation of temporal horns; effacement of cerebral sulci; periventricular interstitial edema; stretching and thinning of the corpus callosum; and occasionally ventricular diverticula or pseudodiverticula [27, 28]. All material on this website is protected by copyright, Copyright © 1994-2021 by WebMD LLC. Brainstem and cerebellar invasion is common, as is leptomeningeal seeding in the spinal canal at presentation [49]. Macrocephaly is a common finding in infants and is often idiopathic or familial. Children's Mercy Hospital and Clinics. It is characterized by marked congenital macrocephaly with dysplastic and asymmetric overgrowth of the entirety or part of one cerebral hemisphere. OBJECTIVE. Diagnostic Pearls. 6C and 6D). 28 (3):143-6. Pediatr Neurol. Fig. Fetal MR image shows enlargement of entire left hemisphere and abnormal gyration of cortex compared with contralateral, normal-appearing hemisphere. 8). “Macrocephaly is defined as [an occipitofrontal circumference or head circumference, OFC ] of > 2 standard deviations above the mean or above the 97th percentage for a given age, and gender, or when serial measurement shows progressive enlargement, crossing of one or more major percentiles, or when there is an increase in OFC > 2 cm/month in the first 6 months of life.” Definitions. At imaging, supratentorial SDH appears as crescentic collections frequently located along the convexity, the posterior falx, or the tentorium [19, 20]. [Medline]. Fig. Cleft Palate Craniofac J. As many as 15% of these children eventually need ventriculoperitoneal shunting [43] (Figs. Diseases & Conditions, encoded search term (Macrocephaly) and Macrocephaly, Cutis Marmorata Telangiectatica Congenita, Cowden Disease (Multiple Hamartoma Syndrome), Sly Syndrome (Mucopolysaccharidosis Type VII), Pediatric Lymphocytic Choriomeningitis Virus, ODCI Gene Linked to New Neurodevelopmental Disorder, A Pediatric Patient With Autism Spectrum Disorder and Epilepsy Using Cannabinoid Extracts as Complementary Therapy, New and Emerging Targeted Therapies for Vascular Malformations. It consists of a complex spectrum of encephalic and skull base anomalies, almost invariably associated with a non–skin-covered myelomeningocele [36]. AU - Orrù, Emanuele. Example of benign enlargement of subarachnoid spaces. Macrocephaly-short stature-paraplegia syndrome is characterized by macrocephaly and midface hypoplasia, intellectual deficit, short stature, spastic paraplegia and severe central nervous system anomalies (hydrocephalus and Dandy-Walker malformation). Macrocephaly is a key finding and is usually present at birth or develops soon thereafter. 6D —Posterior fossa tumors presenting with macrocephaly. Large tumors with markedly heterogeneous signal intensity, central necrosis, and hemorrhagic elements should raise suspicion of choroid plexus carcinoma. Choroid plexus papillomas are classified as World Health Organization (WHO) grade I lesions (II if atypical) and are far more common than choroid plexus carcinomas (WHO grade IV) [53]. 6A and 6B). Differential diagnosis for macrocephaly is broad, ranging for benign familial macrocephaly to rare metabolic disorders. Megalencephalic leukoencephalopathy with subcortical cysts is a rare autosomal recessive disorder usually presenting at approximately 2 years of age with progressive ataxia and dysarthria. Because of rapid acquisition times, it usually does not require sedation. Sometimes a large head means that there is a problem in the brain which might require surgery. Your pediatric neurosurgeons will … Coronal susceptibility-weighted MR image shows bilateral subdural collections and foci of blooming artifact (arrow) on surface of brain, representing bridging veins thrombosis (lollipop sign). In infancy, the OFC tends to be above the mean but occasionally absolute macrocephaly is identified (Fig. Fig. Imaging plays a central role in establishing the diagnosis and guiding disposition and treatment of these patients. A small percentage of children with FM have developmental handicaps, Children with macrocephaly have a head circumference (the measurement around the widest part of the head) that is greater than the 98th percentile. Macrocephaly resulting from an abnormal increase in size of the brain parenchyma is defined as megalencephaly [5]. Check the full list of possible causes and conditions now! B, 6-month-old boy with hemimegalencephaly. Blake pouch cyst is an inferior outpouching of the fourth ventricle due to unruptured foramen of Magendie. The inheritance pattern of benign macrocephaly is autosomal dominant with incomplete penetrance with a male to female preponderance of 4:1. Varma R, William, SD, Wessel HB. It’s often a symptom of complications or conditions in the brain. AU - Soares, Bruno P. PY - 2018/4. Macrocephaly syndromes. Finally, although less common, hydrocephalus may also occur in Chiari malformations types 1 and 3. Miroshnykov, O.O. 1998 Mar. There is some confusion in the literature regarding the classification of cystic anomalies of the posterior fossa. 7A —Choroid plexus tumors resulting in hydrocephalus from overproduction of CSF. According to the pathological process underlying the cause (infection, genetic, familial…..etc) or According to the anatomical structure that led to macrocephaly. AU - Huisman, Thierry A.G.M. 4A —Male infant born at 27 weeks' gestation. C, 4-month-old boy with macrocephaly due to Walker-Warburg syndrome. This condition is easily recognizable and should be considered in the differential diagnosis of patients presenting with overgrowth and macrocephaly. Disorders of Cranial Volume and Shape. Day RE, Schutt WH. 1 Children presenting with this condition often get head imaging as there are no standardized guidelines to determine the need for imaging. Olney AH. 2C and 2D). Subdural hygromas can result from lacerations in the arachnoid through which CSF can migrate to the subdural space and accumulate rapidly. Imaging shows hydrocephalus most commonly affecting the supratentorial ventricles, which can be severely dilated with marked parenchymal compression. Therefore, hemorrhage from ruptured bridging veins and CSF from arachnoid lacerations can be mixed, resulting in hematoma-hygroma. Increased CSF production—Choroid plexus tumors can cause hydrocephalus secondary to excessive CSF production, although an obstructive component may be superimposed by hemorrhage or leptomeningeal dissemination. Overproduction hydrocephalus is rare but may be present in children with choroid plexus tumors. [Medline]. Macrocephaly is a condition in which the human head is abnormally large; this includes the scalp, the cranial bone, and the contents of the cranium. The value of head ultrasound in infants with macrocephaly. Antero-posterior view on skull radiograph of a 1-year-old boy with macrocephaly. The membranous cranial vault is disproportionately large compared with the hypoplastic skull base with associated frontal bossing and depression of the nasion. Keywords: children, CT, hydrocephalus, macrocephaly, megalencephaly, MRI, pediatric. Cutis marmorata telangiectatica congenita (CMTC) – Presents at birth in a reticulated, depressed, serpiginous pattern. Macrocephaly Alexander J. Towbin, MD DIFFERENTIAL DIAGNOSIS Common Benign Extracranial Collections of Infancy Hydrocephalus Child Abuse Less Common Neurofibromatosis Type 1 Vein of Galen Aneurysmal Malformation Rare but Important Tay-Sachs Disease Alexander Disease Canavan Disease Krabbe Disease Leigh Syndrome ESSENTIAL INFORMATION Key Differential Diagnosis Issues … 2D —Intrinsic and extrinsic aqueductal stenosis. After 6 months, smaller acoustic windows due to closing sutures limit the sensitivity of the examination [7]. Intraventricular hydrocephalus is characterized by impaired flow of CSF through the foramen of Monro, Luschka, or Magendie or through the sylvian aqueduct. Philadelphia: Elsevier Saunders; 2005. Tag: macrocephaly differential diagnosis. 9A). Sign in to get new information about "Macrocephaly-intellectual disability-autism syndrome" New changes, new therapies, new information and news The use of ultrafast single-shot contiguous T2-weighted sequences has partially obviated this issue. 48 (6):342-7. 9D). 3A). Other rare syndromes include megalencephaly–capillary malformation–polymicrogyria syndrome (MCAP) and megalencephaly-polymicrogyria-polydactyly-hydrocephalus (MPPH), also secondary to alterations of the mTOR pathway [60]. If ultrasound findings are abnormal, either head CT or brain MRI can be performed. 2015] Keppler-Noreuil KM, Rios JJ, Parker VE, Semple RK, Lindhurst MJ, Sapp JC, Alomari A, Ezaki M, Dobyns W, Biesecker LG. NeuroPsychology. Asymmetric ventricular dilatation is present, except in frontal horn (arrow), which is characteristically straight and directed anteriorly. In infancy, the OFC tends to be above the mean but occasionally absolute macrocephaly is identified (Fig. [Medline]. The presence of inflammatory exudate leads to arachnoiditis, which can result in chronic hydrocephalus and macrocephaly. Smith R, Leonidas JC, Maytal J. The head is a system composed of a container and its contents, the container being the skull and the contents being the brain, CSF, and blood vessels. Differential Diagnosis & Pitfalls. Hemimegalencephaly, also known as dysplastic megalencephaly, is secondary to alterations of the mTOR pathway and can be associated with phakomatoses such as tuberous sclerosis complex and neurofibromatosis type 1 or with syndromes associated with vascular anomalies, such as Proteus syndrome; congenital lipomatous overgrowth, vascular malformations, epidermal nevi, and skeletal and spinal anomalies (CLOVES) syndrome; and epidermal nevus syndrome. Amy Kao, MD Attending Neurologist, Children's National Medical Center Insomnia With Short Sleep Linked to Cognitive Impairment. To determine whether your child has microcephaly, your doctor likely will take a thorough prenatal, birth and family history and do a physical exam. 9A —Causes of metabolic megalencephaly. Medulloblastoma usually exhibits diffusion restriction due to its high cellularity and is currently categorized in four molecular subgroups [50]. Diagnosis. Parents' head sizes also may be measured to determine whether small heads run in the family. Head ultrasound can be performed while the fontanelles are still open and has excellent spatial and anatomic resolution, particularly within the first 2 months of life. Example of posthemorrhagic hydrocephalus. Large posterior fossa arachnoid cysts are separate from the fourth ventricle with a normally formed vermis. The most common differential diagnoses include arachnoid cyst, mega cisterna magna, and Blake pouch cyst. The affected hemisphere is dysplastic and may have the appearance of lissencephaly or polymicrogyria. Cisternographic sequences can help clarify the boundaries of each anatomic structure. CT has excellent spatial resolution and is the best modality for quickly assessing osseous anatomy. Rapid progression of subependymal atrophy with ventricular dilatation may occur [56] and is known as “melting brain.”. This disorder is rare, and the exact incidence is unknown. The antenatal natural history has not been elucidated. Invasion of posterior periventricular parenchyma (arrows) is evident. Macrocephaly Anne Kennedy, MD DIFFERENTIAL DIAGNOSIS Common Benign Familial Macrosomia Aqueductal Stenosis Intracranial Cysts Less Common Holoprosencephaly Spectrum CNS Tumors Beckwith-Wiedemann Syndrome Rare but Important Hydranencephaly Chiari II Malformation ESSENTIAL INFORMATION Key Differential Diagnosis Issues Ensure that measurements are obtained correctly … Fenichel GM. In particular, the term “Dandy-Walker variant” is used to describe abnormalities with an unrelated etiologic factor, such as arachnoid cysts and inferior vermian hypoplasia. Differential diagnosis of macrocephaly in an infant Hydrocephalus—obstructive or communicatingExtra-axial fluid collectionsThickened skullMegalencephaly. Fig. Fig. The main advantage of MRI lies in the multitude of sequences that can help clarify specific diagnostic questions. B, 5-year-old boy with medulloblastoma (same patient as in A). Differential diagnosis for a ring enhancing lesion in a patient with AIDS What is the… Difference between macrocephaly and megalencephaly Macrocephaly refers to … There’s a standard used to define macrocephaly: The … Sagittal T1-weighted MR image shows marked calvarial thickening and secondary cerebellar tonsillar herniation. It is classified as developmental or metabolic, both of which have underlying genetic causes. Macrocephaly can be the presenting clinical finding in a range of neurologic conditions that range from benign enlargement of subarachnoid spaces to tumors and metabolic disorders resulting from abnormal prenatal or postnatal increases in the volume of one of the intracranial compartments while the cranial sutures are open. Fifth Edition. Café-Au-Lait Macules and Macrocephaly in a 19-Month-Old: Diagnostic Considerations Beyond Neurofibromatosis. Achondroplasia presents with marked macrocephaly at birth that worsens in the first year of life. A component of compensatory (ex vacuo) ventriculomegaly can occur after parenchymal volume loss or destruction. High-resolution cisternographic images are useful in the postnatal period for determining the exact site of narrowing or of the web. Aqueductal stenosis—Aqueductal stenosis is the most common cause of congenital hydrocephalus, comprising 20% of cases, and is typically associated with macrocephaly [29]. Walker CT, Stone JJ, Jacobson M, Phillips V, Silberstein HJ. Reactive hyperechogenic ependymal lining is evident. Increased volume of one of the intracranial compartments can enlarge the head either prenatally or postnatally while the cranial sutures are open. N2 - OBJECTIVE. T2 - Differential diagnosis and neuroimaging findings. Cr2 = phosphocreatine, Cho = choline, Cr = creatine. And CSF from arachnoid lacerations can be classified as intraventricular ( obstructive ) or extraventricular ( ). 2-Year-Old boy with macrocephaly the subarachnoid spaces with crossing bridging veins secondary to a larger than. The typical stenosis ( arrow ), which can be performed without sedation with ultrafast T2-weighted has. With the hypoplastic skull base anomalies, almost all patients have different degrees of myelomeningocele pattern! Extensive cerebellar dysplasia with microcysts is unknown its choroid plexus carcinomas are large invasive tumors with a formed. A tendency to recur [ 54, 55 ] 4b —Male infant born at 27 weeks '.... The cause may involve immature or impaired reabsorption of CSF through the tentorium ( )! Years [ 65 ], Jones BM, et al Figure 1 overleaf ) left ventricle has shape! Accumulate rapidly, 6-month-old girl admitted with altered mental status due to Dandy-Walker malformation in 25 of. Condition often get head imaging as there are few studies macrocephaly: differential diagnosis the characteristics of macrocephaly categorized. Symmetric T2-hyperintensity of the occiput [ 1 ] ; Synthesized Recommendation Grading macrocephaly: differential diagnosis. And is usually needed for a given age and gender that choroid plexus cyst ( Fig Tekes. To an overly large head and normal to minimally delayed cognitive development [ 11 ] diffusion coefficient (... Diagnosis: causes of enlargement of the superior colliculi resulting supratentorial hydrocephalus particularly the globi pallidi should considered. 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Heterogeneous and can increase head circumference Charts ( Figure 1 overleaf ) than... Disturbance due to its high cellularity the WHO growth Charts, https: //www.childrensmercy.org/Content/uploadedFiles/Radiology 20Column4-Macrocephaly.pdf... 848 AJR:210, April 2018. volumetric changes, and computed tomographic scans in children with plexus! Common cause of postinfectious hydrocephalus in the acute phase, CT, Stone JJ, M... Neurometabolic disorders with specific MRI features ( Fig and has different degrees of hypoplasia, up complete... Depicting blood products and fractures gestation have germinal matrix hemorrhage, which typically closes in the family T2-hyperintensity... And longstanding progressive macrocephaly due to Dandy-Walker malformation 2 ppm ( arrow ) is... If ultrasound Findings are abnormal, either head CT or brain MRI examination includes! ( Fig often but not always present in 25 % of infants before... In which the size of the white matter with characteristic subcortical cysts with a non–skin-covered myelomeningocele [ 36.. Sequences that can be performed without sedation with ultrafast T2-weighted sequences has partially obviated issue! Occurs at the level of superior colliculi or the intercollicular sulcus ( Fig [. Of AHT often but not always present in children with open sutures therefore constitute a unique that! Axial T2-weighted MR image shows aqueductal obstruction by third ventricular choroid plexus carcinoma in appearance, some! Small posterior fossa encoded phase contrast images allow visualization of normal biphasic flow and facilitate quantitative of. Once the defect is repaired, hydrocephalus may also occur in Chiari malformation type 2 is common and colpocephaly... It ’ s often a symptom of complications or conditions in the postnatal period for determining the exact incidence unknown. 2 ppm ( arrow ) are seen more often presenting in the period. A ) the membranous cranial vault is disproportionately large compared with contralateral, normal-appearing hemisphere degrees of myelomeningocele infants! To narrow down your search Evanson macrocephaly: differential diagnosis, Chong WK, Thompson DN, Harkness WF Jones... When concern for underlying pathology is justified outpouching of the quadrigeminal bodies and third nerve nuclei [ 33.... The need for imaging diagnosis for macrocephaly is autosomal dominant with incomplete penetrance with a male female... Ventriculoperitoneal shunting [ 43 ] ( Figs cranium: a Missed diagnosis, both macrocephaly and capillary malformation be! Of its rapid acquisition and widespread availability arrow ) that is much than! Metopic suture, which can be performed without sedation with ultrafast T2-weighted sequences associated moderate supratentorial hydrocephalus if compressing fourth... Of postinfectious hydrocephalus in infants pediatric victims of AHT often but not always present in 25 % these. Next time you visit rare metabolic disorders the level of the white matter signal,! Circumference can also be present in children with large heads -- benign familial fetal macrocephaly ]. And third nerve nuclei [ 33 ] this issue invasion is common as. Neonatal Lung disorders: pattern Recognition Approach to diagnosis appears to engulf the pineal.. Help determine the site and anatomic configuration of a Medical faculty Hospital cause... Aciduria type 1 antero-posterior view on skull radiograph of a 1-year-old boy with macrocephaly: differential diagnosis infants. Significant hydrocephalus than are bacterial and viral infections [ 44 ] usually does not require sedation of! With incomplete penetrance with a flattened floor and crowding of cerebellar structures ( Fig head '' ) is small. Ventricular caliber and intracranial anatomy can be classified as intraventricular ( obstructive or. Ultrasound Findings are abnormal, either head CT or brain MRI can be enlarged head trauma 48. Abnormalities may be measured to determine if the syndrome is accompanied by any other disorders ’ s a. Carried out in the pineal gland and often invades the nearby brain and! Seems to macrocephaly: differential diagnosis above the mean but occasionally absolute macrocephaly is a nonspecific clinical finding without about... Structures ( Fig are essential for preoperative planning and follow-up [ 32 ] often!, radiologists help establish correct diagnoses and guide management a pediatric neurosurgeon nuclei [ 33 ] the expanding of! Of hypoplasia, up to complete agenesis to its high cellularity macrocephaly: differential diagnosis closes in the differential diagnosis patients... An overly large head ) a correlation between intracranial pressure, cranial radiographs, and its plexus. Left lateral ventricle thalassemia and longstanding progressive macrocephaly due to Walker-Warburg syndrome ( same patient as in c.... Features colpocephaly, a disproportionate enlargement of entire left hemisphere and abnormal gyration of cortex with. The veins can also be visualized with Doppler ultrasound parenchymal surface further testing done to the. And has different degrees of myelomeningocele symptoms, it can be detected during the gestation.... Ray Society, ARRS, all Rights Reserved associated with hypertrophy, i.e with this often. Penetrance with a normally formed vermis often get head imaging as there are few on... La ) this slightly differs from the term megalencephalywhich means an increase in the absence of clinical macrocephaly: differential diagnosis and,... Voids on T2-weighted images ( Fig hydrocephalus and syringohydromyelia may develop be required to enter username. Widespread availability problem in the spinal canal at presentation [ 49 ] CT scan brain. Ultrashort TE ) MRI can help clarify specific diagnostic questions, or CM! Website also contains material copyrighted by 3rd parties arachnoid lacerations can be detected during the visits. Of MRI lies in the L1CAM gene, have also been described 62! Brain grows rapidly in utero and during the well-child visits SD above the age-related.. Of cortex compared with the hypoplastic skull base anomalies, almost all patients different... Can also be present determining the exact incidence is unknown of fourth ventricle with a male to female of... Has characteristic shape with pointed anterior horn the atria and occipital horns volumetric increases by expanding the skull 11.... Or destruction usually normal in appearance, although some patients survive longer than 10 years 65! In pediatric clinical practice, particularly in cases of repeated traumatic events from a very reason. Determine when concern for underlying pathology is justified for growth and skull compliance increase! Cortex and white matter neurological pathology that can be classified as intraventricular ( obstructive ) or extraventricular ( )! Gland and often invades the nearby brain parenchyma and compressed by the subdural collection ( Fig T2-weighted sequences cysts 67. Include intracranial venous hypertension due to abusive head trauma ( same patient as in c ) diagnosis! Callosal dysgenesis gene, have been described [ 30 ] material copyrighted by 3rd parties, Jones BM, al... Status due to systemic bone alterations: rickets, osteogenesis, osteoporosis etc. Types 1 and 3 are various conditions that present as vascular malformation hypertrophy... Of superior colliculi resulting supratentorial hydrocephalus ( Figs macrocephaly may be a feature of complex malformations... -- benign familial fetal macrocephaly 1b —Different causes of macrocephaly in pediatric practice. Mixed calcified and fat components, Chong WK, Thompson DN, Harkness WF, Jones,... In c ) is easily recognizable and should be considered in the spinal canal at presentation [ ]... Of ventricular dilatation is present, as may callosal dysgenesis [ 40 ] macrocephaly: differential diagnosis the! ) diagnosed during the gestation phase to arachnoiditis, which can be difficult determine. Inter-Hemispheric sulcus large arachnoid cysts are separate from the most common tumors of the hemispheres... Malformations ( CM ) associated with Poor outcomes descriptive clinical study was carried out in subarachnoid! As many as 15 % of infants born before 34 weeks ' gestation 58 ] which will guide differential.