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PubMed1999

Glutaric aciduria type I: ultrasonographic demonstration of early signs.

BACKGROUND: Glutaric aciduria type I (GA-I) is a rare inherited metabolic disease with increased excretion of glutaric acid and its metabolites. Diagnosis is often delayed until the onset of irreversible neurological deficits. MATERIAL AND METHODS: We reviewed the clinical and imaging (US, CT and MRI) findings in six patients with proven GA-I and with emphasis on the early US findings. Coronal and sagittal US images of the brain were obtained through the anterior fontanelle in all patients. CT was obtained in three patients and MRI was obtained in two. RESULTS: Macrocephaly was found in all patients, being present in three children at birth or developing rapidly within the first weeks of life. US showed, in all patients, bilateral symmetrical cyst-like dilatation of the sylvian fissures. Progressive fronto-temporal atrophy developed within the first months. CT and MRI demonstrated fronto-temporal atrophy with lack of opercularisation in all cases and basal ganglia or periventricular hypodensities in three patients. CONCLUSIONS: In patients with macrocephaly at birth or rapidly developing within the first weeks of life, US should be performed as the primary imaging modality. Cyst-like bilateral widening of the sylvian fissures is the first sign of GA-I, followed by progressive fronto-temporal and ventricular enlargement. These patients should be screened for GA-I in order to initiate treatment in the asymptomatic stage.

Abnormalities, Multiple↗

PubMed2005

Positional skull deformities in children: skull deformation without synostosis.

BACKGROUND: Patients with craniosynostosis are readily diagnosed by clinical and neuroimaging findings. Surgical treatment is indicated for preventing neurological deficits and for correcting esthetically unacceptable head deformities. In recent years, we have witnessed a progressive number of neurosurgical consultations for abnormal head shapes unrelated to premature fusion of the cranial sutures, especially of positional plagiocephaly. There have been descriptions of abnormalities in the cerebrospinal fluid (CSF) spaces in children with craniosynostosis. OBJECTIVES: The aim of the present study was to investigate the role of the changes of the CSF spaces in the development of positional skull deformities in children. PATIENTS AND METHODS: The authors reviewed demographic, clinical, and neuroimaging data of 23 patients assessed for some form of nonsynostotic skull deformity (group A). The results were compared with those of a simultaneous group of nine infants diagnosed with benign extracerebral collections of fluid (group B). RESULTS: The study group was composed of 11 boys and 12 girls, aged 3 years or younger. Seventeen children had plagiocephaly, four scaphocephaly, and two brachycephaly. Sixteen children (15 with plagiocephaly and 1 with brachycephaly) exhibited enlarged subarachnoid CSF spaces. In group B, the boy/girl ratio was of 7:2. Infants in group A presented at an older age (mean 12.7 months) than group B (mean age at presentation of 7.17 months). Children with benign extracerebral fluid collections were born with a head circumference (HC) greater than infants with positional skull deformities (p=0.005). The percentile of the children's HC at consultation was also larger for children of group B (p=0.03). The form of clinical presentation differed between the two groups. Most infants of group A were seen because of a type of head deformity, and children in group B were studied for macrocephaly. Long-term follow-up assessment showed better outcomes for patients in group B than for children of group A in regard to regression of initial symptoms (p=0.03). CONCLUSIONS: Most positional head deformities appear to be related with the children's positioning for sleeping. We have not confirmed macrocephaly as a contributing factor for positional deformities. The distribution of extracerebral CSF and the presence of abnormal collections of fluid in children with positional head deformities do not seem to be related with the findings of pericerebral CSF encountered in children with benign extracerebral collections of fluid. In our view, brain pulsations, transmitted to these accumulations of CSF, play an important part in the development of the infants' skull deformities (p=0.02). The findings of enlarged CSF spaces in children with nonsynostotic skull deformation constituted an age-related event, as these collections tended to disappear as the children grew older (p=0.04).

Cerebral Ventricles↗

PubMed1991

Separation of an anterior inducing activity from development of dorsal axial mesoderm in large-headed frog embryos.

The body of a vertebrate arises through a series of inductive interactions in the embryo. Macrocephaly is a distortion of the body in which a disproportionate amount of tissue is devoted to the head. This syndrome occurs in certain hybrids between frog species and appears to be due to an alteration of inductive relationships. Chimeric blastulae between normal and hybrid embryos developed macrocephaly when the marginal zone was derived from the hybrid. In these cases, a large cement gland, characteristic of the hybrid head, was induced to form from normal ectoderm. When hybrid zygotes were irradiated with ultraviolet (uv) light, all dorsoanterior structures, including notochord, somites, and central nervous system, were eliminated, but the most anterior-induced structure, the cement gland, remained. Embryos without dorsoanterior structures but with cement glands were also produced by injecting germinal vesicle extracts into the blastocoel of uv-irradiated nonhybrid embryos. These results demonstrate that an anterior inducing activity can be uncoupled from development of the neural tube and dorsal axial mesoderm.

Animals↗

PubMedDate not supplied

Effects of maternal dietary protein restriction on growth of the brain and body in the rat.

We studied the growth of the brain and body in rats born of dams fed a low-protein (8% casein) diet ad lib beginning 5 weeks prior to mating and continuing throughout gestation and lactation. Control dams were fed an isocaloric 25% casein diet. Litters were culled at birth to 8 pups. At birth, brain weights and body weights of pups of protein restricted dams were similar to those of control pups. During the period of lactation, pups of restricted exhibited severely retarded body growth but only mildly retarded brain growth resulting in an elevated brain/body weight ratio. This relative macrocephaly was maximal at 10-20 days of age, declining completely by 35 days of age. The relative macrocephaly could not be accounted for by increased retention of water in the brain of the malnourished rats. Following weaning, pups were maintained ad lib on the diets fed their mothers. At adulthood brain/body weight ratios were normal in the protein restricted group.

Animals↗

PubMedDate not supplied

Cerebral abnormalities in congenital myotonic dystrophy.

The brain structure of 14 infants born with congenital myotonic dystrophy at 2 hospitals was evaluated by cranial ultrasonography, and the findings were correlated with clinical and neuropathologic data. Ventricular dilation was diagnosed in 11 infants (78%). Seven infants died during the neonatal period; all had ventricular dilation which remained essentially static. In the ultrasound scans of the 5 infants with ventricular dilation. Of the 7 survivors, 4 had ventricular dilation born at 1 hospital, 4 had widening of the interhemispheric fissure. Macrocephaly, a previously unrecognized finding in congenital myotonic dystrophy, was present in 10 infants (71%), 8 of whom presented with ventricular dilation. None had clinical evidence of increased intracranial pressure. There was no ventricular obstruction in the 4 brains examined pathologically. Histologic examination revealed minor expression of neuronal migrational disturbances in each patient. Macrocephaly together with the ultrasonographic and neuropathologic findings in our patients suggest that these abnormalities may originate in an external hydrocephalus.

Brain↗

PubMed2007

Quantitative temporal lobe differences: autism distinguished from controls using classification and regression tree analysis.

The temporal lobe is thought to be abnormal in autism, yet standard volumetric analyses are often unrevealing when age, sex, IQ, and head size are controlled. Quantification of temporal lobe structures were obtained in male subjects with autism and controls, where subjects with head circumference (HC) defined macrocephaly were excluded, so that volume differences were not just related to the higher prevalence of macrocephaly in autism. Various statistical methods were applied to the analysis including a classification and regression tree (CART) method, a non-parametric technique that helps define patterns of relationships that may be meaningful in distinguishing temporal lobe differences between subjects with autism and age and IQ matched controls. Subjects with autism were also compared to a separate control group with reading disorder (RD), with the prediction that the temporal lobe morphometric analysis of the reading disorder controls would be more similar to that of the autism group. The CART method yielded a high specificity in classifying autism subjects from controls based on the relationship between the volume of the left fusiform gyrus (LFG) gray and white matter, the right temporal stem (RTS) and the right inferior temporal gyrus gray matter (RITG-GM). Reading disordered individuals were more similar to subjects with autism. Simple size differences did not distinguish the groups. These findings demonstrate different relationships within temporal lobe structures that distinguish subjects with autism from controls. Results are discussed in terms of pathological connectivity within the temporal lobe as it relates to autism.

Adolescent↗

PubMed2005

Clinical and histopathological findings in Bannayan-Riley-Ruvalcaba syndrome.

Bannayan-Riley-Ruvalcaba syndrome is a rare autosomal dominant genodermatosis with the classical triad of macrocephaly, genital lentiginosis, and intestinal polyposis. Characteristic mucocutaneous manifestations include vascular malformations, lipomatosis, speckled lentiginosis of the penis or vulva, facial verrucae-like or acanthosis nigricans-like lesions, and multiple acrochordons of the neck, axilla, and groin. We present a case of Bannayan-Riley-Ruvalcaba syndrome with macrocephaly, abnormal facies, lipoma, tender and painful arteriovenous hemangiomas, lymphangiokeratomas, musculoskeletal abnormalities, and localized myopathy. We also describe previously unreported findings, including peripheral neuropathy, punctate cystic changes in acral tubular bones, and enostosis of talus. Bannayan-Riley-Ruvalcaba syndrome needs recognition by dermatologists because affected patients may present with mucocutaneous and subcutaneous lesions that may simulate other dermatological disorders.

Abnormalities, Multiple↗

PubMed2006

Cutaneous lipoma in children: 5 cases with Bannayan-Riley-Ruvalcaba syndrome.

Cutaneous lipoma is rare in children, but it can be part of a syndrome such as the Bannayan-Riley-Ruvalcaba syndrome (BRRS). The BRRS is a dominant autosomal disorder characterized by cutaneous lipomas, macrocephaly, intestinal polyps, and developmental delay associated with PTEN gene mutations. This syndrome is thought to represent a pediatric form of the Cowden syndrome, characterized among other features by an increased risk of cancer. We report 5 cases of BRRS, all diagnosed in children with lipoma and macrocephaly. Children presenting with lipomas need a complete physical examination to look for other signs of BRRS, because they may need further follow-up for tumor screening in adulthood.

Abnormalities, Multiple↗

PubMed2006

Heterogeneous expression of hydrocephalic phenotype in the hyh mice carrying a point mutation in alpha-SNAP.

The hyh mouse carrying a point mutation in the gene encoding for soluble N-ethylmaleimide-sensitive factor (NSF) attachment protein alpha (alpha-SNAP) develops inherited hydrocephalus. The investigation was designed to study: (i) the clinical evolution of hyh mice; (ii) factors other than the alpha-SNAP mutation that may influence the expression of hydrocephalus; (iii) the neuropathological features underlying the different forms of clinical evolution. The study included 3017 mice, 22.4% of which were hydrocephalic. The neuropathological study was performed in 112 mice by use of light and electron microscopy. It was found that maternal- and sex-related factors are involved in the heterogeneous expression of hyh phenotype. The clinical evolution recorded throughout a 4-year period also revealed a heterogeneous expression of the hydrocephalic phenotype. Two subpopulations were distinguished: (i) 70% of mice underwent a rapidly progressive hydrocephalus and died during the first 2 months of life; they presented macrocephaly, extremely large expansion of the ventricles, equilibrium impairment and decreased motor activity. (ii) Mice with slowly progressive hydrocephalus (30%) survived for periods ranging between 2 months and 2 years. They had no or moderate macrocephaly; moderate ventricular dilatation and preserved general motor activity; they all presented spontaneous ventriculostomies communicating the ventricles with the subarachnoid space, indicating that such communications play a key role in the long survival of these mice. The hyh mutant represents an ideal animal model to investigate how do the brain "adapt" to a virtually life-lasting hydrocephalus.

Animals↗

PubMed2006

Pten and the brain: sizing up social interaction.

In a comprehensive set of experiments in this issue of Neuron, Kwon et al. demonstrate that conditional inactivation of Pten leads to behavioral abnormalities and neuropathological changes. Pten mutants displayed reduced social interaction and heightened responses to sensory stimuli. Additionally, neuronal hypertrophy, as well as macrocephaly was observed. Based on rare human mutations in PTEN and the PI3K pathway, the authors suggest they have produced a potential animal model of autism with macrocephaly.

Animals↗

PubMed1992

Bannayan-Zonana syndrome associated with lipomas, hemangiomas, and lymphangiomas.

Bannayan-Zonana syndrome is a rare disorder characterized by macrocephaly and multiple soft tissue and visceral hamartomas. This report presents a sporadic patient with macrocephaly, lipomas, hemangiomas, and lymphangiomas who died of cardiac and respiratory failure due to progressive cervicomediastinal arteriovenous fistulous hemangiomas at the age of 9 years.

Abnormalities, Multiple↗

PubMed1998

Bannayan-Zonana syndrome: a rare autosomal dominant syndrome with multiple lipomas and hemangiomas: a case report and review of literature.

BACKGROUND: Bannayan-Zonana syndrome is a rare hamartomatous disorder, characterized by macrocephaly, multiple lipomas, and hemangiomas. Inheritance is by autosomal dominant transmission with few reported sporadic cases. Male predominance is also reported. METHODS: We describe a patient who presented with multiple subcutaneous lipomas, mild macrocephaly, and an extradural spinal hemangioma. Other affected family members and 24 other previously reported cases are discussed. RESULTS: Spinal hemangiomas have not been described previously with this syndrome. The patient also had a "malignant bone tumor" removed from his humerus 20 years ago. Two of the patient's siblings also had lymphoma, which is an unusual accompaniment not reported previously. Only the male members in the family showed multiple subcutaneous lipomas. CONCLUSION: Some patients with Bannayan-Zonana syndrome may have hamartomatous lesions producing cord compression or intracerebral hemorrhage, or they may rarely have other malignant tumors; therefore it is important that neurosurgeons are aware of the entity. The early diagnosis of BZS is also important for genetic counseling.

Adult↗

PubMed2001

L-2-Hydroxyglutaric aciduria presenting as status epilepticus.

L-2-Hydroxyglutaric aciduria (L-2-HGA) is a rare organic aciduria with a slowly progressive course regarding CNS involvement. We present a 13.5-year-old female patient who presented at the Emergency Department with a generalized status epilepticus, which promptly responded to intravenous phenytoin. CT and MRI demonstrated subcortical white matter alterations. The neurological examination revealed mild mental retardation, macrocephaly and ataxic gait with cerebellar signs. Repeated urinary organic acid analysis demonstrated increased excretion of 2-hydroxyglutaric acid which was of the L-configuration. The constellation of macrocephaly in a patient with mental retardation, cerebellar tract involvement and subcortical white matter signal alterations on MRI should alert the physician to the possibility of L-2-HGA. Although rare, epileptic seizures or even status epilepticus can be among the presenting symptoms in organic acidurias with a slow course, such as L-2-HGA.

Adolescent↗

PubMed1998

Megalencephaly and leukodystrophy with mild clinical course: a report on 12 new cases.

Twelve patients with early infancy onset megalencephaly and leukodystrophy with a mild clinical course are reported. The neuroradiological, clinical, and genetic aspects of this recently recognized familial leukodystrophy syndrome were reviewed. Five were affected siblings, and all patients had consanguineous parents. Macrocephaly, a slowly progressive delay in motor development and mild mental deterioration constitute the clinical triad of the disease, showing characteristic age-related onset. The clinical findings outlined remarkably slight functional deterioration despite severe lesions on magnetic resonance imaging (MRI), especially in the initial period. Characteristically, mental function is preserved for years after onset of the motor deficit. The MRI lesions do not reflect the progress of disease. The disease probably has an autosomal recessive mode of inheritance even though no metabolic defect has been detected to date. In a more severe variant of the mentioned disease, there is more progressive and severe neurological dysfunction, including ataxia and spastic quadriparesis, leading to an inability to walk independently after 10 years of age. In mild variants, however, disease severity varies from macrocephaly with near-normal pyschomotor development to mild motor and/or mental dysfunction. Seizures were observed in both types but response to drugs was good. The 12 patients reported here confirm the specific and distinguishing clinical and radiological features of the previously reported 51 cases with this new syndrome, while adding some information regarding identification of the disease.

Brain↗

PubMed2003

[Vegetarian diet in glutaric aciduria type I].

Glutaric aciduria type I is an autosomal recessive metabolic disease (1 case/30,000) characterized by a progressive dystonic-diakinetic syndrome in children. Pathologic examination reveals striatal degeneration of the caudate and putamen nucleus and biochemical analysis shows glutaryl CoA dehydrogenase deficiency. Values of glutaric and -hydroxyglutaric acids in urine are usually increased. Currently, the disease is considered untreatable since there are usually irreversible lesions in the central nervous system at diagnosis. However, treatment can be provided to pre-symptomatic children and usually to the siblings of patients with this diagnosis. We present the case of a 23-month-old boy, with macrocephaly and minimal neurologic manifestations at diagnosis, which were attributed to his semivegetarian diet. A dietary regimen and vitamin supplementation halted and even improved symptomatic progression of the disease. We conclude that amino and organic acids in urine should be investigated in all children with progressive macrocephaly of unknown etiology to rule out glutaric aciduria type I.

Amino Acid Metabolism, Inborn Errors↗

PubMed2001

Pten regulates neuronal soma size: a mouse model of Lhermitte-Duclos disease.

Somatic inactivation of PTEN occurs in different human tumors including glioblastoma, endometrial carcinoma and prostate carcinoma. Germline mutations in PTEN result in a range of phenotypic abnormalities that occur with variable penetrance, including neurological features such as macrocephaly, seizures, ataxia and Lhermitte-Duclos disease (also described as dysplastic gangliocytoma of the cerebellum). Homozygous deletion of Pten causes embryonic lethality in mice. To investigate function in the brain, we used Cre-loxP technology to selectively inactivate Pten in specific mouse neuronal populations. Loss of Pten resulted in progressive macrocephaly and seizures. Neurons lacking Pten expressed high levels of phosphorylated Akt and showed a progressive increase in soma size without evidence of abnormal proliferation. Cerebellar abnormalities closely resembled the histopathology of human Lhermitte-Duclos disease. These results indicate that Pten regulates neuronal size in vivo in a cell-autonomous manner and provide new insights into the etiology of Lhermitte-Duclos disease.

Animals↗

PubMed2005

Possible genotype-phenotype correlations in children with mild clinical course of Canavan disease.

Canavan disease is characterised as a rare, neurodegenerative disease that usually causes death in early childhood. It is an autosomal recessive disorder due to an aspartoacylase (ASPA) deficiency. The causative gene has been mapped to chromosome 17 pter-p13. Here we describe three affected children from two Greek families with an unusually mild course of Canavan disease. All children presented with muscular hypotonia and macrocephaly. Diagnosis was based on elevated N-acetylaspartate in urine, reduced aspartoacylase activity in fibroblasts, and marked white matter changes on cerebral imaging. All three affected individuals exhibited continuous psychomotor development without any regression. Genetic analyses revealed compound heterozygous mutations (Y288 C; F295 S) in two individuals. The Y288 C variant was previously described in a child with macrocephaly, mild developmental delay, increased signal intensity in the basal ganglia, partial cortical blindness and retinitis pigmentosa, and slightly elevated N-acetylaspartate in the urine. Demonstration of the same variant in two unusually mildly affected Canavan disease patients and absence of this variant in 154 control chromosomes suggest a possible pathogenic role in mild Canavan disease. In the third individual, two homozygous sequence variants were identified, which comprise the known G274R mutation and a novel K213E variant.

Adolescent↗

PubMed1992

[Prenatal diagnosis of thanatophoric dwarfism].

Thanatophoric dwarfism is a rare malformation, occurring in less than 1:10,000 pregnancies. It can be discovered by standard ultrasound examination, but other skeletal dysplasias such as achondroplasia, achondrogenesis and polydactyly syndromes must be taken into consideration. Sonographic findings are polyhydramnia, narrow chest, symmetric tetramicromelia and macrocephaly. Macrocephaly might cause a problem for vaginal delivery. The narrow chest with secondary lung hypoplasia determines the infaust prognosis.

Adult↗