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At least 19 recordsLinked to original sources
PubMed1991

Autosomal dominant macrocephaly: benign familial macrocephaly or a new syndrome?

During the course of a clinical study of Sotos syndrome, six out of 79 probands failed to fit the phenotype of Sotos syndrome but showed remarkable similarities to each other and to a further 11 first- and second-degree relatives. Clinical features in these index cases included macrocephaly, greater than +3.5 SD; normal or near normal birth weight and length with subsequent relative obesity; variable developmental delay; and typical face, characterised by a square outline with frontal bossing, a "dished-out" mid-face, biparietal narrowing, and long philtrum. All recorded bone ages were less than the 75th centile, and two were below the 10th centile. The authors believe the original diagnosis was incorrect and that these cases likely represent a previously undescribed autosomal dominant macrocephaly syndrome.

Adult↗
PubMed1992

Correlation of skeletal muscle biopsy with phenotype in the familial macrocephaly syndromes.

The muscle biopsy results from 14 children with macrocephaly and hypotonia/weakness were correlated with clinical findings compatible with any of the autosomal dominant macrocephaly syndromes. Thirteen of the 14 had evidence of lipid storage myopathy, either generalised or focal. All 13 had examinations consistent with either benign familial macrocephaly, Ruvalcaba-Myhre-Smith syndrome, or Bannayan-Zonana syndrome. These results suggest that all three of these disorders may represent phenotypic variability at a single genetic locus.

Abnormalities, Multiple↗
PubMed1976

Benign familial macrocephaly: report of a family and review of the literature.

Five members in two generations of one family were found to have occipitofrontal head circumferences more than 2 SD above the mean. All five had normal intelligence and neurological examinations. Three of the five had ventricular dilatation by A-mode echoencephalography. The inheritance pattern of macrocephaly in this family appears to be autosomal dominant with incomplete penetrance. Possible causes of the macrocephaly in this family are discussed and the reported cases of macrocephaly with normal intelligence and no neurological deficits are reviewed.

Cephalometry↗
PubMed1975

Macrocephaly in association with unusual cutaneous angiomatosis.

Ten patients are presented who demonstrate a newly recognized association of macrocephaly with unusual angiomatosis and limb asymmetry in three somewhat similar cutaneous vascular disorders: Klippel-Trenaunay-Weber syndrome, the combination of Sturge-Weber anomaly with Klippel-Trenaunay-Weber syndrome, and cutis marmorata telangiectatica congenita. The etiology of the macrocephaly in patients with these conditions is unknown. The majority (seven of ten) of these children have no evidence of central nervous system dysfunction.

Angiomatosis↗
PubMed1975

Slow tremor and macrocephaly: expanded version of the bobble-head doll syndrome.

The clinical features of three children in whom a slow tremor involving the head, trunk, or limbs was associated with macrocephaly are presented. The findings were similar but not identical to those previously reported in four children with the bobble-head doll syndrome. These seven children have many of the signs and symptoms found in patients with surgically or spontaneously arrested hydrocephalus, including motor incoordination, behavior and psychologic deviations, and endocrine dysfunction. The tremor which can be voluntarily inhibited and which disappears following shunt surgery, is unique. The theoretical basis for the tremor is briefly discussed.

Abnormalities, Multiple↗
PubMed1977

Hunter syndrome presenting as macrocephaly and hydrocephalus.

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.

Child, Preschool↗
PubMed1992

[Idiopathic external hydrocephaly and familial macrocephaly in infancy].

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.

Abnormalities, Multiple↗
PubMed1991

[Macrocephaly as the initial manifestation of glutaryl-CoA-dehydrogenase deficiency (glutaric aciduria type I)].

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.

Amino Acid Metabolism, Inborn Errors↗
PubMed1978

Megalencephaly in infants and children. The possible role of increased dural sinus pressure.

Seven children studied because of clinical macrocephaly and suspected hydrocephalus ultimately proved to have megalencephaly apparently due to an increase in sagittal sinus venous pressure as established from infusion studies. Unexplainably, these patients were all males. All were seen initially between 2 and 8 months of age. Head enlargement exceeded two standard deviations in all seven. Pneumoencephalography, ventriculography, or computerized tomography demonstrated normal or minimally enlarged ventricles that did not progress in size. Isotope cisternography was abnormal. Studies of CSF formation and absorption demonstrated normal absorption rates but high calculated sagittal sinus pressures. Though therapy was usually not required, in one unusual infant, severe progressive macrocephaly with minimal hydrocephalus required a shunt. Another had a transient episode of acute hydrocephalus associated with a low CSF absorption rate and ventricular enlargement. In this report, we review the intracranial hydrodynamics of benign intracranial hypertension (BIH), communicating hydrocephalus, and the pathogenesis of megalencephaly. Benign intracranial hypertension and the type of megalencephaly demonstrated by our patients appear to develop similarly except that the presence of open cranial sutures may allow a transient nonhydrostatic loading of brain parenchyma in infants, resulting in mild, nonprogressive macrocephaly.

Brain↗
PubMed2024

Expanding the phenotype and genotype spectrum of TAOK1 neurodevelopmental disorder and delineating TAOK2 neurodevelopmental disorder.

PURPOSE: The thousand and one kinase (TAOK) proteins are a group of serine/threonine-protein kinases involved in signaling pathways, cytoskeleton regulation, and neuronal development. TAOK1 variants are associated with a neurodevelopmental disorder (NDD) characterized by distinctive facial features, hypotonia, and feeding difficulties. TAOK2 variants have been reported to be associated with autism and early-onset obesity. However, a distinct TAOK2-NDD has not yet been delineated. METHODS: We retrospectively studied the clinical and genetic data of individuals recruited from several centers with TAOK1 and TAOK2 variants that were detected through exome and genome sequencing. RESULTS: We report 50 individuals with TAOK1 variants with associated phenotypes, including neurodevelopmental abnormalities (100%), macrocephaly (83%), and hypotonia (58%). We report male genital anomalies and hypoglycemia as novel phenotypes. Thirty-seven unique TAOK1 variants were identified. Most of the missense variants clustered in the protein kinase domain at residues that are intolerant to missense variation. We report 10 individuals with TAOK2 variants with associated phenotypes, including neurodevelopmental abnormalities (100%), macrocephaly (75%), autism (75%), and obesity (70%). CONCLUSION: We describe the largest cohort of TAOK1-NDD to date, to our knowledge, expanding its phenotype and genotype spectrum with 30 novel variants. We delineated the phenotype of a novel TAOK2-NDD associated with neurodevelopmental abnormalities, autism, macrocephaly, and obesity.

Humans↗
PubMed1975

Cerebrospinal fluid dynamics in megalencephaly.

Macrocephaly is one of the signs most commonly used in the diagnosis of hydrocephalus. Two children are reported who presented with macrocephaly. The results of neurological examination were normal apart from delay in mental development. Head circumferences were above the 98th percentile. Air studies showed mildly dilated ventricles with no obstruction, and ventriculolumbar perfusions indicated normal rates of cerebrospinal fluid formation and absorption. At seven years of age the children were mildly mentally retarded, with head circumferences above the 98th percentile. In the girl the ventricles were still mildly dilated but in the boy they were normal. It is concluded that the macrocephaly in these two children was the result of progressive megalencephaly and not of abnormal ventricular enlargement (hydrocephalus).

Brain Diseases↗
PubMed1991

Head circumference and intellectual performance of patients with Duchenne muscular dystrophy.

The head circumferences of 64 patients with Duchenne muscular dystrophy were measured and found to be greater than those of a normal population. The patients had relative, and in 12 cases, absolute macrocephaly. 47 of the 64 patients underwent intelligence testing and were found to be significantly intellectually impaired, particularly in verbal and language skills. There was no correlation between head circumference or absolute macrocephaly and intellectual performance. The cause of macrocephaly in these patients is unknown and its relevance to the aetiology of intellectual impairment in Duchenne muscular dystrophy is not yet clear.

Adolescent↗
PubMed1991

Beemer-Langer syndrome with manifestations of an orofaciodigital syndrome.

We report on an infant girl with hydrops, macrocephaly, high forehead, flat face, hypertelorism, broad nasal bridge, median cleft lip and alveolar ridge, grooved palate, accessory frenula, small tongue, milia, severe rib and limb shortness, brachydactyly, talipes equinovarus, Dandy-Walker malformation, accessory spleen, unfixed mesentery, ectopic pancreas, and renal cysts. This patient resembles seven previously reported patients with the Beemer-Langer syndrome, a distinct lethal short rib syndrome characterized by hydrops, markedly short ribs and limbs, median cleft lip with or without cleft palate, flat face, and macrocephaly. Polydactyly is usually absent. Our patient's oral anomalies suggest an orofaciodigital syndrome, but the severe rib and limb shortness distinguish it from those disorders.

Adult↗
PubMed1991

Lhermitte-Duclos disease and Cowden disease: a single phakomatosis.

Two unrelated patients with macrocephaly, seizures, and mild cerebellar signs had a dysplastic gangliocytoma of the cerebellum (Lhermitte-Duclos disease). Both also had autosomal dominant Cowden disease as evidenced by facial, oral, and acral papules. In the two families, 9 sibs demonstrated the mucocutaneous lesions, thyroid disease, breast tumors, and ovarian tumors compatible with the diagnosis of Cowden disease. Some of the sibs also showed various degrees of neurological signs such as macrocephaly, mental retardation, seizures, tremor, and dysdiadochokinesia. Magnetic resonance imaging scans of sibs of one family demonstrated megalencephaly and other mild abnormalities. The occurrence of these two rare disorders in single patients is more than a coincidence, and the clinical findings in the combined condition establishes it as a new phakomatosis.

Abnormalities, Multiple↗
PubMed1992

The widened frontal subarachnoid space. A CT comparative study between macrocephalic, microcephalic, and normocephalic infants and children.

The computed tomographic scans of the heads of 67 infants and children with frontal subarachnoid space widening seen during a 5-year period were retrospectively studied. Only 22.3% of patients had macrocephaly. Comparison of the clinical and radiologic characteristics of subarachnoid widening in macrocephalic children and in normocephalic or microcephalic children showed no significant differences. It is concluded that undue emphasis has been laid on the association between this radiologic sign and macrocephaly. Widening of the subarachnoid space in children may be a variation of normal development of brain whereby there is a transient accumulation of cerebrospinal fluid in the frontal region. The term "external hydrocephalus" may therefore be inappropriate in the absence of significant ventricular widening and clinical signs of raised intracranial pressure.

Cephalometry↗
PubMed1992

X-linked hydrocephalus: clinical heterogeneity at a single gene locus.

X-linked hydrocephalus-stenosis of the aqueduct of Sylvius sequence (H-SAS, MIM number 30007) is a rare genetic disorder characterized by hydrocephalus, macrocephaly, adducted thumbs, spasticity, agenesis of corpus callosum and mental retardation. We confirm here the localisation of the mutant gene on Xq (Xq 2.8) by linkage analysis in a 5-generation pedigree (maximum lod score of Z = 4.57 at theta = 0.04 with probe St14 at locus DXS52) and emphasise the phenotypic variability of the disease. Ventricular dilatation in affected males was either severe and diagnosed antenatally or moderate and consistent with a long survival with little or no macrocephaly. Since other X-linked syndromes of mental retardation with spasticity and flexion deformities of the thumbs have previously been shown to map to the Xq 2.8 region as well (e.g. MASA syndrome and spastic paraplegia), the present results raise the question of whether H-SAS syndrome, MASA syndrome and spastic paraplegia with mental retardation might represent different phenotypic expression of various mutations at the same locus.

Adult↗