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PubMed2000

Brain volume in children with neurofibromatosis type 1: relation to neuropsychological status.

OBJECTIVE: To determine characteristics of brain morphology in children and adolescents with neurofibromatosis type 1 and relate these characteristics to neuropsychological functioning. BACKGROUND: Neurofibromatosis type 1 is associated with numerous CNS abnormalities and cognitive impairment. Abnormal high signal intensity visible on brain MRI, brain tumors, and macrocephaly are common. Research into links between neuroanatomic and cognitive features has been inconclusive. METHODS: Fifty-two children and adolescents with neurofibromatosis type 1 were compared with 19 control subjects on several quantitative neuroanatomic and neuropsychological measures. RESULTS: Total brain volume, especially gray matter, was significantly greater for neurofibromatosis type 1 subjects than the control subjects. Group differences in the ratio of gray matter to white matter were more prominent in younger than in older subjects. Volume of gray matter in the subjects with neurofibromatosis type 1 was related to their degree of learning disability. Corpus callosum size was significantly larger for subjects in the neurofibromatosis type 1 group, and diminished performance on measures of academic achievement and visual-spatial and motor skills were associated with greater regional corpus callosum size. CONCLUSIONS: Neuroanatomic morphology and the developmental pattern of gray matter and white matter in subjects with neurofibromatosis type 1 differed from in control subjects. Some of these differences are related to the neuropsychological status of the neurofibromatosis type 1 group. We propose that delayed developmental apoptosis results in macrocephaly and a delay in the development of appropriate neuronal connections in children with neurofibromatosis type 1. We further propose that these morphologic delays are related to the cognitive profile of neurofibromatosis type 1.

Adolescent↗

PubMed2002

[Thanatophoric dysplasia: report of 2 cases with neuropathological study].

We report two cases of thanatophoric dysplasia (TD) with detailed neuropathologic evaluation. One case was representative of TD type I and the other TD type II. The case with TD type I showed macrocephaly, narrow thoracic cage, pulmonary hypoplasia and bowed limbs. Radiological study showed flat vertebral bodies, short curved appendicular skeleton and flaring of metaphyses. The other case (TD type 2) showed macrocephaly, cleft palate, short limbs and cloverleaf skull. Radiological findings were generalized platyspondy with excessive intervertebral disc space heights and a large head. Microscopic examination of both cases revealed temporal lobe polymicrogyria, abnormalities of the hippocampus and heterotopic neuroglial tissue within the meninges. There were no noticeable differences in CNS abnormalities between TD type I and II.

Brain↗

PubMed2006

[Investigation of neurodevelopment delay etiology: resources and challenges].

To verify the reach of development delay investigation, we brought the experience in the pediatrics, infantile neurology and clinical genetics diagnoses, with resources of a tertiary health care, in 73 children, from 1 to 47 months age, between 1999 and 2001, attending a Stimulation Program of the Association of Parents and Friends of Exceptional Children of Batatais-SP. With a transversal and prospective method, six groups were identified: motor disturbances, dysmorphisms, malnutrition, macrocephaly, microcephaly and motor delay. In the analysis of the contribution of the antecedents, physical or laboratory exams to the diagnosis, it stands out the brain image in the groups "motor disturbances" and "macrocephaly"; and for the remaining groups, the physical examination and maternal data. The causes were detected in 48 (66%), being 38.4% of environmental and 24.6% genetics origin. It is emphasized the specialist evaluation, and the need of appropriate flow of information in the net of health.

Child, Preschool↗

PubMed2000

Head circumference is an independent clinical finding associated with autism.

Occipitofrontal circumference (OFC) is one of the few physical findings in autism that varies significantly from the norm and is distinct and measurable. As part of a study of genetic heterogeneity of autism, we scrutinized data from a large sample of patients with idiopathic autism (N = 137), using OFC as the categorizing variable. The OFC standard deviation (OFCSD) values of the autistic propositi (0.61+/-1.6) varied significantly from that of the normal population (0.0+/-1.0), (P<0.001). Comparison of the macrocephalic (OFCSD > 2.0, N = 32) with the normocephalic individuals (-2 SD < OFCSD < +2 SD, N = 95) showed no significant differences in sex ratio, morphological status, IQ, seizure prevalence, or recurrence risks. The macrocephalic individuals were slightly less apt than those with normocephaly to have a family history of Attention Deficit Hyperactivity Disorder (ADHD) (P<0.05). Each clinical subgroup of autism propositi, defined on the basis of phenotypic status, type of onset, seizure history, or IQ, had a higher than normal mean OFC indicating that macrocephaly is an independent clinical trait in autism. As in the non-autistic population, macrocephaly was highly familial with 45% of the macrocephalic and 37% of the normocephalic propositi having at least one macrocephalic parent. Microcephaly, however, was an independent significant variable that predicted the presence of other phenotypic or genetic traits and outcome. The microcephalic patients were more likely to have abnormal physical morphology, structural brain malformations, lower IQ, and seizures. Their sex ratio was closer to normal, and their relatives had a higher incidence of seizures.

Adolescent↗

PubMed2001

[Intrauterine dwarfism and dysmorfic features. A case of Russel-Silver syndrome].

Russel-Silver syndrome is characterized by severe intrauterine growth retardation and is the most characteristic intrauterine dwarfism syndrome. In addition to short stature, low birth weight and reduced postnatal growth, this syndrome is characterized by features such a relative macrocephaly, a typical craniofacial appearance, asymmetry of the body and other abnormalities. Recent studies on developmental delay in these children have shown that most require special education. Attempts to explain the mechanism underlying this condition have been unsuccessful. Recent studies suggest a genetic cause, mainly uniparental disomy 7, although definitive data are lacking. We report a characteristic case of Russel-Silver syndrome: a newborn with fetal growth retardation, the craniofacial features described by Russel, relative macrocephaly, asymmetry of the body and very low weight increase.

Abnormalities, Multiple↗

PubMedDate not supplied

[Intracranial arachnoid cysts. A study of a series of 35 cases].

INTRODUCTION: Arachnoid cysts are cavities with a content similar to cerebrospinal fluid, frequently communicating with the subarachnoid space. They make up 1% of the intracranial space occupying lesions, and although typically seen in children (13%), they may be undiagnosed until the patient has become adult. PATIENTS AND METHODS: We review a series of 35 cases of congenital intracranial arachnoid cysts in children, which had been investigated in the Neuropaediatric Department during 1987 1999. The patients had had cranial CAT and MR, and transcranial echography studies. RESULTS: In 85.7% there was a single cyst. The Sylvan fissure and posterior fossa were the commonest sites. The age of diagnosis was under 1 year in 54.3% and at birth in 25.7%. There were other associated malformations of the central nervous system in 31.4%, with agenesis of the corpus callosum in 45.5%. The most frequent clinical features on presentation of the condition were macrocephaly (31.4%) and epileptic crises (25.7%). The surgical treatment most often used was cystoperitoneal shunt. CONCLUSIONS: Congenital arachnoid cysts are caused by alteration in the embryogenesis of the central nervous system, and hence their association with other malformations and prevalence in children. The most frequent clinical findings were macrocephaly, due to the size of the cyst or the associated hydrocephaly, and epileptic seizures secondary to cortical irritation caused by pressure. Management of symptomatic lesions is surgical. The cystoperitoneal shunt was generally used in our series, since this was followed by clinical improvement in most cases.

Adolescent↗

PubMed2005

Megalencephalic leukoencephalopathy with subcortical cysts.

Megalencephalic leukoencephalopathy with subcortical cysts is a rare disease first described in 1995. It is characterized by macrocephaly and early onset white matter degeneration. We report two siblings who were diagnosed to have this disease. This disease must be included in differential diagnosis of macrocephaly with early onset leukoencephalopathy.

Brain Neoplasms↗

PubMed2005

[A case of Bannayan-Zonana syndrome].

Bannayan Zonana syndrome is a very rare disease. The characteristic of this disease include macrocephaly, multiple benign tumors and various malformations. A 7-month-old baby with Bannayan-Zonana syndrome was scheduled for the repair of cleft lip and plate. The hight was 77 cm and weight was 9.8 kg, and he had macrocephaly with atrial septal defect and bilateral otitis media. No tumors had been detected in the airway by MRI before induction and the vocal cord could be visualized by laryngoscope. Anesthesia was induced with sevoflurane 5% and vecuronium 1 mg, and maintained with sevoflurane 1-2% and fentanyl 150 microg. At the end of the operation, nasal airways were inserted and we extubated in the operation room. He was discharged from ICU on the second postoperative day without complications.

Abnormalities, Multiple↗

PubMedDate not supplied

[Changes in cranial size and configuration in infants].

Abnormalities of cranial size and configuration include macrocephaly, microcephaly and dysmorphic skull. Hydrocephalus, mega-encephalus, abnormal growth of skull bones and chronic subdural and epidural collections are among the most important causes of macrocephaly. Primary microcephaly may be due to deficient neuronal proliferation or abnormalities in neural tube segmentation or cellular migration. Secondary microcephaly may be caused by prenatal, perinatal or early postnatal insults like infections, drugs, radiation, hypoxia, among others. Abnormal cranial forms may be sporadic or secondary to genetic and chromosomal diseases. Craniosynostosis can be managed surgically with positive results when early diagnosis and treatment are accomplished.

Cephalometry↗

PubMed1979

Morphologic comparison of piglets from first and second litters in chronic ethanol-consuming Sinclair(S-1) miniature swine.

Piglets (L-1) from 13 litters farrowed by 1-year-old, first litter alcohol-consuming dams were evaluated for altered morphology, A second group of piglets (L-2) farrowed by 6 second litter alcohol-consuming dams also was evaluated. Mean litter size and birth weight for L-1 piglets were 4.85 and 602 +/- 152 g; mean litter size and birth weight for L-2 piglets were 2.00 and 478 +/- 168 g. Fetal mortality rates for L-1 and L-2 piglets were 15 and 25%, respectively. Anomaly rates observed in fetal deaths were 11 and 100% for L-1 and L-2 piglets, respectively. L-1 anomalies were macrocephaly, microphthalmia, necrosis of bowel, nonexternalization of penile tissue, unascended kidney and unilateral renal hypodevelopment. L-2 anomalies were anencephaly, microcephaly, nonfusion of cranial sutures, macrocephaly, microphthalmia, nonfusion of mandibles, cleft palate, imperforate cloaca, sydactyly and polydactyly.

Abnormalities, Drug-Induced↗

PubMed1981

[Megalencephaly: a report of 4 children including a previously undescribed congenital syndrome and review of the literature (author's transl)].

The author recently examined four children of clinical macrocephaly. Their occipitofrontal head circumference was exceeded 2 standard deviations above the mean for chronological age. Megalencephaly with normal ventricular system was proved by computerized tomography or pneumoencephalography. The purpose of this paper is to report four cases with various clinical aspects and to discuss the similarity of these patients. Additionally, previously reported syndromes with macrocephaly and multiple hemangiomas were presented in Table 4. Case 1 A 6 year-old was accidentally admitted because of infectious disease. His development was uneventful. Case 2. A 2 year-old boy was admitted because of delayed speech and delayed walking. He had no neonatal complications and no history of convulsions. Case 3. A 4 year-old boy was accidentally admitted because of abdominal pain. His physical examination exhibited diffuse hemangiomatous lesions on the right side of face, neck and chest, and congenital glaucoma. He was diagnosed as Sturge-Weber anomalad at the age of 2 years. Case 4. A 3 year-old girl was admitted because of distended abdomen. She had widely spread strawberry hemangioma on her right abdominal wall and blue and brownish phacomatosis on her back. GI tract examination showed lymphoid hyperplasia of the colon. Clinical profiles are presented in Table 3. These patients were different from Sotos syndrome (cerebral gigantism), but had the following similar findings besides megalencephaly-1) large birth weight (mean; 3961 g), 2) hypotonic and wasting muscles, 3) clumsy in walking and running, 4) no hereditary tendency. The Cases 1, 3 and 4 had normal mental development. The Case 4 was seemed as a previously undescribed clinical syndrome in which the principal features were megalencephaly, distended abdomen, hypotonic and wasting muscles, lymphoid hyperplasia of the colon, retroperitoneal cavernous hemangioma, and cutaneous hemangioma and neuroma. The relationship between cutaneous involvement and megalencephaly was unknown.

Brain↗

PubMed1995

[Idiopathic external hydrocephalus].

5 male children who had idiopathic external hydrocephalus are described; all were all in the first year of life. Macrocephaly and hypotonia were present in all, as well as mild to moderate delay in language and gross motor development; cognition was normal. CT-scan showed in all enlarged subarachnoid spaces but normal or mildly dilated lateral ventricles. Macrocephaly was present in the fathers of 4 of the 5 families. In all cases the course of this condition was benign. There was clinical and roentgenological improvement between the ages of 2 and 2.5 years; the developmental delay resolved at about age 4, at which time the CT pattern had become normal.

Developmental Disabilities↗

PubMed1995

CT and MR of the brain in glutaric acidemia type I: a review of 59 published cases and a report of 5 new patients.

PURPOSE: To identify a pattern of findings on CT or MR of the brain in glutaric acidemia type I typical enough to permit a correct diagnosis. METHODS: Clinical history and findings and brain CT and MR results in 59 previously reported patients (MR in 12) and in 5 new patients (all examined with MR and 3 also with CT) were reviewed. RESULTS: In half the patients macrocephaly was present, and in half the onset was acute, often following infection and mimicking encephalitis. Although brain atrophy or hypoplasia was found in 61% and white matter changes in 51% of the patients, open opercula (usually very widely open) and often also wide cerebrospinal fluid spaces anterior to the temporal lobes were seen in 93%. Basal ganglia lesions, presenting as volume loss and high T2 signal in the caudate head and often also the lentiform nucleus bilaterally, were found in 44% and extracerebral fluid collections in 7 of 64 patients. CONCLUSION: The finding of very widely open opercula suggests glutaric acidemia type I, and if combined with basal ganglia lesions is almost pathognomonic, especially in a child with macrocephaly.

Atrophy↗

PubMed1997

Further clinical delineation and increased morbidity in males with osteopathia striata with cranial sclerosis: an X-linked disorder?

Osteopathia striata with cranial sclerosis (OS-CS) is a bone dysplasia characterized by hypertelorism, macrocephaly, frontal bossing, broad nasal bridge, palate anomalies, hearing deficits, and mental retardation. The radiographic findings include cranial sclerosis, linear striations in the long bones and iliac wings, small poorly aerated sinuses, scoliosis, and increased bone density. The sensory deficits are disabling, but the condition generally is not life threatening. We describe 4 brothers with the characteristics of OS-CS, 3 of whom have died from more serious complications of the disorder. The mother of these children, and her only daughter, have the mildest phenotype with the typical linear striations in the long bones and macrocephaly. OS-CS is thought to be autosomal dominant with complete penetrance and variable expressivity. Our observations could be consistent with X-linkage, since there is milder expression in the female relatives. In addition, we recognize absent fibulae, malrotation, and omphalocele as new manifestations as well as congenital heart disease.

Bone Diseases, Developmental↗

PubMed1997

Ultrasonographic study of children suspected of hydrocephalus at the Queen Elizabeth Central Hospital in Blantyre, Malawi.

Eighty Malawian children aged below 15 months who presented with rapidly enlarging head and were suspected of having hydrocephalus were investigated with anterior fontanelle ultrasonography at the Queen Elizabeth Central Hospital (QECH), Blantyre. Of the 68 (85%) who were found to have hydrocephalus, 35 (51.5%) were post infective, 14 (20.6%) were associated with lumbosacral myelomeningocele, 13(19.1%) were post haemorrhagic and the rest probably congenital or idiopathic. The remaining 12 patients with macrocephaly but without hydrocephalus comprised six children with hydranencephaly, five with subdural effusion and one with achondroplasia. Ultrasonography of the head is thus a simple, quick, non-invasive, economical diagnostic tool in the management of macrocephaly and to a limited sense as effective as CT scan. Its increased use in the investigation of infantile hydrocephalus is therefore recommended in developing countries with limited resources and without sophisticated imaging techniques.

Diagnosis, Differential↗

PubMed2024

Loss of function of FAM177A1, a Golgi complex localized protein, causes a novel neurodevelopmental disorder.

PURPOSE: The function of FAM177A1 and its relationship to human disease is largely unknown. Recent studies have demonstrated FAM177A1 to be a critical immune-associated gene. One previous case study has linked FAM177A1 to a neurodevelopmental disorder in 4 siblings. METHODS: We identified 5 individuals from 3 unrelated families with biallelic variants in FAM177A1. The physiological function of FAM177A1 was studied in a zebrafish model organism and human cell lines with loss-of-function variants similar to the affected cohort. RESULTS: These individuals share a characteristic phenotype defined by macrocephaly, global developmental delay, intellectual disability, seizures, behavioral abnormalities, hypotonia, and gait disturbance. We show that FAM177A1 localizes to the Golgi complex in mammalian and zebrafish cells. Intersection of the RNA sequencing and metabolomic data sets from FAM177A1-deficient human fibroblasts and whole zebrafish larvae demonstrated dysregulation of pathways associated with apoptosis, inflammation, and negative regulation of cell proliferation. CONCLUSION: Our data shed light on the emerging function of FAM177A1 and defines FAM177A1-related neurodevelopmental disorder as a new clinical entity.

Humans↗

PubMed2025

KLHL13 functional defects cause neurodevelopmental disorder in humans that can be rescued via inhibition of AURKB in cellular and animal models.

PURPOSE: Neurodevelopmental disorders (NDDs) are characterized by limitations in brain development. This study aims to determine the genetic causes of NDD in humans. METHODS: Exome sequencing was used to detect genetic variants of KLHL13, which encodes Kelch like protein 13 (KLHL13), in four families segregating in an X-linked pattern. In silico protein modeling and overexpression in heterologous cells were used to determine the variant's impact. klhl13 loss of function was modeled in zebrafish, followed by rescue studies using human KLHL13 messenger RNA (mRNA) and an Aurora Kinase B (AURKB) inhibitor. RESULTS: We found one frameshift and three missense hemizygous variants of KLHL13 in individuals exhibiting NDD characteristics, such as intellectual disability (ID) and macrocephaly. Three-dimensional protein modeling simulation predicted the alteration of the KLHL13 protein folding for missense variants. Overexpression of NDD-associated variants in HEK293T cells revealed a significant impact on KLHL13-mediated cell-cycle regulation during mitosis, leading to genomic instability. Knocking down klhl13 in zebrafish resulted in developmental deficits, which were rescued by coinjection of human KLHL13WT messenger RNA but not by transcript encoding NDD variants. Treatment with AURKB selective inhibitor AZD1152-HQPA rescued genomic stability in heterologous cells and neurobehavioral deficits in zebrafish. CONCLUSION: Our results implicate KLHL13-mediated AURKB regulation as a significant contributor to NDD in humans. Inhibiting AURKB activity could serve as a potential therapeutic approach to improve brain development and cognitive function.

Humans↗

PubMed2006

Mucocutaneous neuromas: an underrecognized manifestation of PTEN hamartoma-tumor syndrome.

BACKGROUND: The spectrum of clinical findings associated with PTEN tumor suppressor gene germline mutations, referred to as PTEN hamartoma-tumor syndrome (PHTS), includes Cowden and Bannayan-Riley-Ruvalcaba syndromes. Although the skin is the ectodermal structure most often affected by these autosomal dominant genodermatoses, abnormalities of neural tissues are frequently observed. OBSERVATIONS: We describe a 5-year-old boy with macrocephaly, prominent corneal nerves, and progressive development of multiple painful, dome-shaped, translucent pink to skin-colored papules on the vermilion portion of the upper lip, fingers, palms, and shins. Histologic evaluation demonstrated dermal proliferation of well-demarcated nerve bundles associated with abundant mucin and surrounded by a distinct perineural sheath, findings diagnostic of a nonencapsulated neuroma. Genetic analysis revealed a novel heterozygous germline nonsense mutation in PTEN, predicted to result in a truncated PTEN protein. To our knowledge, this represents the first report of multiple neuromas as the sole mucocutaneous manifestation of PHTS. CONCLUSIONS: This article highlights neuromas as a cutaneous sign of PHTS, drawing attention to manifestations of PHTS in neural tissues of the skin, eye, gastrointestinal tract, and brain. Along with multiple endocrine neoplasia type 2B, PHTS should be considered in the differential diagnosis of multiple mucocutaneous neuromas, particularly those involving extrafacial sites.

Child, Preschool↗