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A 2-year-old boy with macrocephaly, communicating hydrocephalus, and mild hepatosplenomegaly was found to have mild Hunter syndrome (MPS II). Establishment of the latter diagnosis was complicated by the paucity of obvious physical findings because of the patient's young age and his ethnic origin.
Mutations of the PTEN gene are associated with hamartoma-neoplasia syndromes. While germline mutations at this chromosome 10q22-23 locus have been observed in patients with Cowden syndrome (CS) and Bannayan-Riley-Ruvalcaba syndrome (BRR), both of which phenotypes are associated with hamartomata and neoplasia, somatic mutation of PTEN has been established in a wide variety of sporadically occurring neoplasia. CS and BRR share some clinical features, specifically hamartomata and lipomatosis. Investigation of other clinically distinct syndromes associated with lipomatosis and overgrowth has established germline and germline mosaic PTEN mutations in several patients with Proteus syndrome. To this expanding array of clinically distinct phenotypes associated with PTEN mutations, we now report a novel heterozygous germline mutation, H61D, in a patient with features of VATER association with macrocephaly and ventriculomegaly.
We studied a boy with macrocephaly, hypotonia, pigmentary retinopathy, unilateral whorled hypopigmented skin lesions, and seizures. Skin biopsy confirmed the clinical diagnosis of hypomelanosis of Ito. Postmortem examination at age 22 months revealed a severe neuronal migrational defect that altered the cerebral cortex architecture of white matter. There were many gray matter heterotopias characterized by altered neurons and giant cells. Electronmicroscopy revealed the astrocytic nature of the giant cells. Embryologic migration of both melanoblasts from neural crest and cortical neurons occurs in the second trimester, suggesting a common mechanism for the developmental pathology of skin and brain.
A seven-year old female with primary megalencephaly and pseudopapilledema has been followed for over four consecutive years. Physical examinations of the patient and her family, funduscopic photography, and fluorescein angiography have failed to identify the etiology of her pseudopapilledema. Macrocephaly and pseudopapilledema have been seen in association in only one previous report to our knowledge. The importance of distinguishing pseudopapilledema from true papilledema in children with large heads is reviewed.
We report two sisters with Neuhäuser [megalocornea, macrocephaly, mental and motor retardation MMMM] syndrome. They also had hypotonia, incomplete cleft palate, bifid uvula, depressed nasal bridge, epicanthal folds, hypoplastic labia major, micrognathia and pectus excavatum. Their brain magnetic resonance imaging showed cortical atrophy, large fourth ventricle and hypoplasia of corpus callosum. These findings have not been reported before in MMMM syndrome. Prenatal sonography could have been helpful if the mother had asked for genetic counseling given the presence of hypoplasia of corpus callosum and Dandy-Walker variant.
BACKGROUND AND PURPOSE: Because of increased prevalence of macrocephaly in autism, head size must be controlled for in studies that examine volumetric findings of the temporal lobe in autistic subjects. We prospectively examined temporal lobe structures in individuals with autism who were normocephalic or macrocephalic (head circumference > 97th percentile) and in control subjects who were normocephalic or macrocephalic or who had a reading disorder (unselected for head size). The rationale for the reading disorder group was to have control subjects with potential temporal lobe anomalies, but who were not autistic. METHODS: In individuals aged 7-31 years, autism was diagnosed on the basis of standardized interview and diagnostic criteria. Control subjects ranged in age from 7 to 22 years. All subjects were male. MR morphometrics of the major temporal lobe structures were based on ANALYZE segmentation routines, in which total brain volume and total intracranial volume (TICV) were calculated. Both group comparisons and developmental analyses were performed. RESULTS: No distinct temporal lobe abnormalities of volume were observed once head size (TICV) was controlled for. In autistic and control subjects, robust growth patterns were observed in white and gray matter that differed little between the groups. Although subtle differences were observed in some structures (ie, less white matter volume in the region of the temporal stem and overall temporal lobe), none was statistically significant. CONCLUSION: No major volumetric anomalies of the temporal lobe were found in cases of autism when IQ, TICV, and age were controlled. Temporal lobe abnormalities that may be associated with autism are likely to be more related to functional organization within the temporal lobe than to any gross volumetric difference.
Idiopathic external hydrocephalus is a frequent cause of macrocephaly in infants. The cranial CT scan shows an enlarged subarachnoid space, especially in the frontal area, with a prominent interhemispheric fissure and occasionally an enlargement of the ventricular system. Sixteen patients with this condition are reported; 7 of which had a family history of megalo-encephaly and 4 had delayed motor development, although it was transient in 3 of the cases. The cranial circumference was normal at about 18 months of age, but 4 patients had megalo-encephaly after 3 years of age. The radiological images were normal in all cases between 24 and 48 months of age without treatment.
Glutaric aciduria type I is due to an impaired glutaryl-CoA-dehydrogenase with an increased urinary excretion of glutaric and 3-OH glutaric acid. Typically, the clinical course until the sixth month or even 3rd year of life is symptom free, and only later an encephalopathic crisis develops. The only symptom of our 4 patients was macrocephaly (head circumference greater than 97. percentile) in early infancy. 3 of them suffered from an encephalopathic crisis at 8 months to 3 years of age; during that time they lost already established abilities as sitting, walking and speaking, and developed choereoathetotic movements. One child aged 15 months was normal beside it's macrocephalus. All children were treated with a diet low in lysine (80 mg/kg BW/day), tryptophane (21 mg/kg BW/day), and by supplementation of L-carnitine (200 mg/kg BW/day) and riboflavine (200 mg/day) and the motorically disturbed children received Lioresal 1 mg/kg BW/day. The effect of this treatment cannot be evaluated so far, but there is evidence that the dietetic therapy together with carnitine supplementation may prevent further deterioration in affected, or an encephalopathic crisis in unaffected patients. Therefore we suggest to investigate organic acids in urine in every child or infant with macrocephalus to exclude glutaric aciduria type I.
24 families of probands with a high head circumference/height ratio greater than the 97th percentile were investigated for head circumference and height. It is concluded that "benign macrocephaly" represents rather the upper extreme of the normal distribution of head circumference than--as has been suggested by some authors--a discrete and autosomal dominant entity.
The intrapartum management of pregnancy complicated by fetal hydrocephalus with macrocephaly often confronts the physician with a complex array of moral obligations to both mother and fetus that may sometimes come into direct conflict. The authors analyze the component beneficence-based and autonomy-based obligations of these conflicts and offer strategies for resolving them for each of three clinical subgroups. For isolated fetal hydrocephalus, we argue that cesarean section should be performed except when the woman with full informed consent unwaveringly refuses. For fetal hydrocephalus with severe associated abnormalities (those incompatible with postnatal survival or those characterized by the virtual absence of cognitive function), we propose that cephalocentesis followed by vaginal delivery is permissible. For fetal hydrocephalus with other associated abnormalities, we suggest that the permissibility of cephalocentesis followed by vaginal delivery depends on the degree of severity of the associated abnormalities.
The Bannayan syndrome is a disorder consisting of macrocephaly, alterations of linear growth, and benign mesodermal hamartomas--primarily lipomas and hemangiomas. The purpose of this report is to present a family with the Bannayan syndrome, confirming the genetic etiology of the disorder and demonstrating that affected individuals are at risk for developing intracranial neoplasms. This report brings to seven the number of cases reported in the literature.
In a twin baby of low birth weight a transient abnormally increased growth velocity of the head circumference could be observed. Sodium and water retention were recognized as the underlying disturbance responsible for brain edema. This mechanism is one of several possible etiologic factors leading to macrocephaly in early infancy. Pathogenesis, therapy and prophylactic measures are discussed.
During a systematic clinical genetic survey of the institutionalized moderately to severely mentally retarded we had the occasion to examine two nonrelated adult patients who presented a similar MCA/MR syndrome: 1) macrocephaly (OFC > 60 cm) with high and broad forehead and contrasting relative midfacial hypoplasia; 2) short stature with small and broad hands and feet; 3) neurological symptoms of a variable degree of spastic paraplegia and severe CNS malformations on CT-scan i.e. internal hydrocephalus and Dandy-Walker variant malformation.
We present the distinct clinical symptoms and stigmata in 4.5 years old monozygotic male twins: macrocephaly, hypospadias grade III-IV, moderate mental retardation and fragile X-like behavior. Chromosome studies were normal and no FMR-1 mutation could be detected. We could not find other reports on the association of a fragile X-like clinical and behavioral phenotype and hypospadias grade III-IV.
We report two brothers from non-consanguineous parents who share a particular constellation of clinical and radiographic findings, including macrocephaly, mental retardation and seizures as well as megalencephaly, cavum septum pellucidum and persistence of cavum vergae. The similar characteristics of these two brothers suggest a hereditary syndrome.
We report on two brothers with relatively short limbs, macrocephaly, high and narrow forehead, frontal upsweep of hairline, hypotelorism, broad but short ears, straight back, and mild hypermobility of all joints. Both were hypotonic neonatally and had developmental delay and behavior problems. Several of the manifestations were present in the father, too. A literature search failed to uncover any similar case.
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We describe a boy with mild manifestations of the Bannayan-Zonana syndrome (BZS): large scaphocephalic head with marked frontal bossing, hypertrophy on the right side of the body, large and irregular café-au-lait spots, and cutaneous telangiectasia on large parts of the body and a cavernous hemangioma on the internal side of the left leg; soft cutaneous masses were present in the left axilla and inner part of the left arm; hypotonia and mild neurologic dysfunction were also present. BZS is reported as an autosomal dominant condition with variable expressivity; analysis of our data and those reported in the literature suggest that the interfamilial variability observed might represent different allelic mutations, or genetic heterogeneity.