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PubMed1999

"Essentially pure" partial trisomy (6)(p23-->pter) in two brothers due to maternal t(6;17)(p23;p13.3).

We report on two brothers with low birth weight, growth retardation, microcephaly, minor facial anomalies, mental retardation, and trisomy (6)(p23-->pter) due to a maternal t(6;17)(p23;p13.3). As demonstrated by fluorescent in situ hybridisation (FISH) with the Miller-Dieker cosmid probe (D17S379) and with a subtelomeric probe (D17S34) the additional deletion on 17p13 is very small, and therefore, the phenotype of these two boys is most likely the result of essentially pure partial trisomy 6p. Comparison of the clinical findings with those of ten cases from the literature of dup(6p) with a breakpoint in or more distal to 6p23 allows delineation of a specific phenotype of dup(6)(p23-->pter) characterized by low birth weight, growth retardation, microcephaly, and blepharophimosis, blepharoptosis, microstomia, and abnormal ears.

Abnormalities, Multiple↗

PubMed2001

Rett syndrome in Thai female girls: clinical studies.

Rett syndrome consists of a highly complex but consistent set of clinical signs and symptoms. Clinical characteristics consist of microcephaly, delayed psychomotor development, autistic behavior, stereotyped hand-washing, and seizures. Over a period of 14 years (1987-2000), 7 patients with Rett syndrome were evaluated at the Out Patient Unit, King Chulalongkorn Memorial Hospital, Bangkok, Thailand. All seven patients were females aging 1 1/2 to 5 years old when diagnosis was established. All were appearently normal at birth and had developmental regression after a period of time. All of them developed microcephaly, autistic features, seizures, and stereotyped hand-washing-movement. Five of seven patients (71.42%) developed episodic hyperventilation. All cases had abnormal electroencephalogram. Computer tomography scan were examined in 3 cases which were normal while magnetic resonance imaging were studied in 2 cases and was abnormal in one.

Child, Preschool↗

PubMed2001

Holoprosencephaly: the Maastricht experience.

Holoprosencephaly (HPE) is a developmental field defect with impaired cleavage of the embryonic forebrain as the cardinal feature. The prevalence is about 1 in 11.000-20.000 in live births and 1 in 250 during embryogenesis. In most cases, craniofacial abnormalities are associated and reflect in 80% of cases the degree of severity. The severity is of marked variability and ranges from cyclopia to minimal craniofacial dysmorphism, such as mild microcephaly with a single central incisor. The etiology of HPE is very heterogeneous and comprises environmental factors (e.g. maternal diabetes) and genetic causes. Approximately 50% of HPE cases are associated with a cytogenetic abnormality (the most common of which is trisomy 13) or a monogenic syndrome. Based on recurrent cytogenetic abnormalities, there are at least 12 genetic loci that likely contain genes implicated in the pathogenesis of HPE. Currently, four human HPE genes are known: SHH at 7q36, ZIC2 at 13q32, SIX3 at 2p21 and TGIF at 18p11.3. Over the past 13 years, 16 patients with HPE have been observed at the Department of Clinical Genetics at Maastricht. Some of them are briefly presented in order to emphasize the spectral nature of HPE and the etiological heterogeneity. One patient appeared to have a partial 18p deletion due to a maternal cryptic translocation t(1:18) and, in addition, a SHH mutation. The mildest affected patient presented with microcephaly and a single maxillary incisor; she had a submicroscopic 7q deletion. Finally, we propose a protocol of etiological work-up of HPE cases.

Brain↗

PubMed2001

[Metabolic complications and neurologic manifestations of vitamin B12 deficiency in children of vegetarian mothers].

BACKGROUND: Serious hematological, metabolic and neurological complications owing to the nutritional deficiency of vitamin B12 may occur in infants of mothers on a strict vegetarian diet. METHODS AND RESULTS: The mother of the first child was a strict vegetarian. She had an elevated urinary methylmalonic acid level and a low concentration of serum vitamin B12. Her 13-month-old daughter was exclusively breast-fed until the age of 9 month and then she was fed only vegetables. Physical examination revealed psychomotoric retardation, apathy, muscular hypotonia, abnormal movements and failure to thrive. Laboratory analysis showed a megaloblastic anaemia, a low level of vitamin B12 and methylmalonic aciduria. MRI of the brain revealed diffuse frontotemporoparietal atrophy and retardation of myelination. After treatment with vitamin B12 supplements, abnormal movements disappeared and development improved, but a mild generalised hypotonia continued. A cranial MRI 9 months after treatment still showed signs of retardation of myelination. The second patient, an 8 month-old male, son of a strict vegetarian mother too, was referred for investigation of psychomotoric retardation, hypotonia, dyskinesia, failure to thrive and microcephaly. He was breast-fed and from 6 month of age he had also received fruit juices. Laboratory analysis revealed megaloblastic anaemia, high methylmalonic aciduria and homocystinuria. The patient's and his mother's serum level of vitamin B12 were low. After treatment with vitamin B12 supplements, biochemical and metabolic markers of disease were normal but there continued a generalised hypotonia, microcephaly and language delay. CONCLUSION: Our observations emphasize the health complications of nutritional cobalamine deficiency and a requirement of clinical, biochemical and metabolic monitoring in infants within strict vegetarian families.

Anemia, Megaloblastic↗

PubMed2004

[Wolf-Hirschhorn syndrome].

Wolf-Hirschhorn syndrome (WHS) is a rare developmental disorder associated with hemizygous deletion of short arm of chromosome 4. Main phenotype characteristics of WHS are: intrauterine growth retardation, mental retardation, typical facial dysmorphism ("Greek warrior helmet"), microcephaly and midline fusion defects (cleft lip or palate, cardiac septal defects). Other abnormalities, like agenesis of corpus callosum, dysplastic kidneys, coloboma iris, skeletal abnormalities have been described occasionally. We described female newborn baby with 4p deletion, who had most of the phenotype characteristics of Wolf-Hirschhorn syndrome: intrauterine growth retardation, microcephaly, facial dysmorphism, congenital hypotonia and seizures in neonatal period. Other abnormalities included: hypoplastic cervical vertebra C4-C5, renal cyst and partial agenesis of corpus callosum. Patient had not cardiac septal defect. Due to a broad spectrum of possible morphologic abnormalities followed by mental retardation, prenatal diagnosis is very important. Postnatal recognition of the syndrome requires genetic counseling of parents and supportive multidisciplinary treatment.

Abnormalities, Multiple↗

PubMed2004

Maternal hyperphenylalaninemias in healthy Czech population of pregnant women: 30 years experience with screening, prevention and treatment.

INTRODUCTION: The increased level of phenylalanine (Phe) in maternal blood--hyperphenylalaninemia (mHPA) has a detrimental effect on the early development of healthy foetus (1965). The toxic effect causes spontaneous abortion or retards intrauterine growth, skeletal malformation, cardiac anomalies can appear. However the most frequent are microcephaly, mental retardation and hypotrophy. PATIENTS AND METHODS: Simultaneously with the introduction of obligatory "Newborn Screening Program" in CR also the facultative screening for mHPA was introduced ("Maternal Hyperphenylalaninemia Preventive Screening Program"). Since 1975 till now 222,990 healthy pregnant women (16-47 yrs) from city Prague and its area (cca 2 mil. inh.) have been screened for increased Phe in blood by Efron's chromatographic screening test (1964); Phe cut off value: 240 micromol/l. Nonfasting venous blood has been taken in 2nd-3rd month of pregnancy during the first antenatal visit. All positive cases have been verified with quantitative Phe estimation on amino acid analyzer incl. pterines analysis in urine. For differentiation of detected mHPAs the Güttler's scheme (1980) has been used. Mutations for Phe-hydroxylase gene analyzed by restriction enzyme digestion after Guldberg (1994). RESULTS: The average incidence of mHPA detected at the beginning of pregnancy was found 1:8675. The major part (65.3%) of all detected mHPA belongs to mild or moderate form of phenylketonuria (PKU) with most frequent PAH gene mutations R408W, Y414C, IVS11 nt8g-a, R158Q, IVS12ntlg-a and R261Q. 19.2% corresponds to atypical or classical PKU with prevailing mutation R408W. Only in 15.3% were detected non-PKU (persistent HPA) with mutations R408W, Y414C, IVS12ntlg-a, IV11nt8g-a and A403V. 28 offsprings born from pregnancies on low-phenylalanine diet (LPD) introduced at least 2 months before the conception and during the whole pregnancy show normal psychomotoric development. In 7 offsprings without LPD or after delayed introducing or on PLD or badly monitored showed malformations (microcephaly, hypotrophy, skeletal malformations) or died. DISCUSSION: Relatively high incidence of mHPA detected in healthy population of pregnant women of Prague area differs from findings of Buist (1989) or Levy (1994) from American pregnant women screened for mHPA from umbilical blood. We consider that screening performed at the beginning of pregnancy from nonfasting venous blood is more effective compared to umbilical blood from two reasons: the Phe level in maternal blood is increased during first trimester of pregnancy due to succing effect of placenta in comparison to decreased Phe level at the end of labour. Umbilical blood for screening of mHPA is not quite suitable to detect the atypical or mild forms of Phe disturbances which prevailed in our Slavonic population of pregnant women. (Tab. 5, Fig. 7, Ref. 16.)

Adolescent↗

PubMedDate not supplied

[Encephalopathy in children infected by vertically transmitted human immunodeficiency virus].

INTRODUCTION: According to different authors, between 30% and 70% of children with AIDS clinically present some degree of neurological involvement. When including studies on pathology, the number increases to 96%. DEVELOPMENT: We present the epidemiology of pediatric neuro-AIDS in Argentina and our experience in the follow-up of 784 HIV+ children infected by vertical transmission, of whom 311 developed neuro-AIDS. Of these children, 92% presented encephalopathy. In 29% of cases infection of the central nervous system was the hallmark of the disease followed by recurrent bacterial infection in 33%. The present series accounts for 25% of pediatric cases of HIV infection in the country. CONCLUSIONS: In our experience, the most remarkable results of antiretroviral treatment compared with natural evolution were: a) Ad integrum remission or noteworthy improvement of progressive and non-progressive encephalopathy, b) Conversion of the most severe cases of progressive encephalopathy (severe developmental delay, acquired microcephaly, spastic quadriparesis and fatal progression) into a more moderate phenotype (less developmental delay, normal head growth, spastic paraparesis and chronic evolution of the disease), and c) Reversion of acquired microcephaly observed in the first years of the epidemic, on which little has been published in the literature.

AIDS Dementia Complex↗

PubMed1990

An animal model to study toxicity of central nervous system therapy for childhood acute lymphoblastic leukemia: effects on growth and craniofacial proportion.

Many long term survivors of childhood acute lymphoblastic leukemia have short stature, as well as craniofacial and dental abnormalities, as side effects of central nervous system prophylactic therapy. An animal model is presented to assess these adverse effects on growth. Cranial irradiation (1000 cGy) with and without prednisolone (18 mg/kg i.p.) and methotrexate (2 mg/kg i.p.) was administered to 17- and 18-day-old Sprague-Dawley male and female rats. Animals were weighed 3 times/week. Final body weight and body length were measured at 150 days of age. Femur length and craniofacial dimensions were measured directly from the bones, using calipers. For all exposed groups there was a permanent suppression of weight gain with no catch-up growth or normal adolescent growth spurt. Body length was reduced for all treated groups, as were the ratios of body weight to body length and cranial length to body length. Animals subjected to cranial irradiation exhibited microcephaly, whereas those who received a combination of radiation and chemotherapy demonstrated altered craniofacial proportions in addition to microcephaly. Changes in growth patterns and skeletal proportions exhibited sexually dimorphic characteristics. The results indicate that cranial irradiation is a major factor in the growth failure in exposed rats, but chemotherapeutic agents contribute significantly to the outcome of growth and craniofacial dimensions.

Animals↗

PubMed1989

ATFresno: a phenotype linking ataxia-telangiectasia with the Nijmegen breakage syndrome.

This report describes twin girls with typical features of ataxia-telangiectasia, including increased alpha-fetoprotein, radio-resistant DNA synthesis, characteristic chromosome abnormality, and immunodeficiency. They have, in addition, microcephaly and mental retardation. Complementation studies were performed utilizing Sendai virus--mediated fusion of fibroblast cell lines. Complementation was observed with patients in ataxia-telangiectasia complementation groups A, C, and E but not with the cell line from a patient with the Nijmegen breakage syndrome, in which patients have microcephaly, radio-resistant DNA synthesis, chromosome aberrations, and immunodeficiency but lack ataxia and telangiectasia. These data suggest that the Nijmegen breakage syndrome and the patients described here are not genetically distinct entities but form a spectrum of one disorder.

Ataxia Telangiectasia↗

PubMedDate not supplied

Type I schizencephaly: CT and neuropathologic findings.

Type I schizencephaly, which is less commonly recognized than the type II variety, consists of a "fused" cleft in the cerebral mantle. Its CT appearance is significantly different from the type II variety, and it may be confused with postdevelopmentally acquired lesions. The CT appearance of eight cases (seven girls and one boy, aged 10 months to 18 years) of type I schizencephaly was correlated with clinical findings and previously recorded neuropathologic features. Presenting symptoms included developmental delay, seizures, and hemiparesis. CT findings in each case showed a unilateral, cortically lined cleft in the parasylvian region extending from the hemispheric surface to the ventricle. Micropolygyria was present in the cortex lining the cleft, and in two of eight patients was also visible elsewhere in the cerebral cortex. Those with associated microcephaly (four of eight patients) had significantly more severe neurologic deficits than did those without microcephaly. CT findings in type I schizencephaly are characteristic and show excellent correlation with neuropathologic specimens. The appearance of these lesions can be explained on the basis of a disorder of neuronal migration in early gestation and they should not be confused with postdevelopmentally acquired lesions.

Adolescent↗

PubMed1984

[Abnormalities of the central nervous system. Results of 3 years of genetic counseling at the University Hospital of Rennes: 192 cases].

The authors present their view of screening for central nervous system malformations in Brittany, having studied 192 case histories of subjects seen in the three years of genetic counselling in Rennes. Ultrasound usually manages to demonstrate anencephaly but all too often it fails to demonstrate spina bifida. Furthermore serum or amniotic fluid alphafetoprotein levels are often poorly interpreted. Microcephaly and encephaloceles occur rarely. The ultrasound diagnosis of the latter is easy whereas it is more difficult to diagnose microcephaly. The authors point out that there are familial forms of hydrocephaly and of holoprosencephaly which are not all that rare and fairly easy to diagnose so long as one remembers this very serious abnormality.

Academic Medical Centers↗

PubMed1978

[Combined transplacental carcinogenic action of N-nitrosomethylurea (NMU) and N-nitrosoethylurea (NEU) in rats].

To reveal the relationship between teratogenesis and carcinogenesis, the author studied brain blastomogenesis features against the background of the development of deformities induced by the combined transplacental effect of NMU and NEU. To induce brain defects such as microcephaly NMU was injected on the 15th day, whereas to induce cerebellar defects- on the 21st day of embryogenesis. Moreover, at the 13th or 17th day NEU was additionally injected, which is found to be highly effective for inducing brain tumors. It was found that in NMU exposure (at the 15th day) until NEU exposure (at the 17th day of embryogenesis) no reliable decrease in brain tumor occurrence was noted, compared with that if only NEU was employed. In the reverse sequence, i. e. first the exposure to NEU (at the 13th day) and then to NMU (at the 15th day) the occurrence of tumors located in cerebral hemisphers was 3 times less. It is assumed that cytotoxic effect of NMU leading to microcephaly is likely to cause the death of a considerable amount of cell population previously transformed.

Animals↗

PubMed1994

A new syndrome: congenital thrombocytopenia, Robin sequence, agenesis of the corpus callosum, distinctive facies and developmental delay.

We present two female children with a distinctive pattern of malformation, including persistent thrombocytopenia, Robin sequence, agenesis of the corpus callosum, distinctive facies and developmental delay. We feel that these findings constitute a heretofore undescribed syndrome. Patient 1 presented during the newborn period with thrombocytopenia, Robin cleft, distinctive facies and agencies of the corpus callosum. Her thrombocytopenia has been persistent. Bone marrow aspirate showed adequate megakaryocytes. On follow-up she has mental retardation, microcephaly, growth delay and enamel hypoplasia. Patient 2 was also noted during the newborn period to have the Robin sequence, agenesis of the corpus callosum, a similar face to case 1 and persistent thrombocytopenia. Bone marrow aspirate showed decreased megakaryocytes. She also had delayed development, short stature, microcephaly and enamel hypoplasia. The combination of the Robin cleft, congenital onset of persistent thrombocytopenia and enamel hypoplasia appears particularly unique in combination. The aetiopathogenesis of this condition is unknown.

Abnormalities, Multiple↗

PubMed1996

[Computed tomography and magnetic resonance imaging of the brain in congenital rubella syndrome].

Nine children with congenital rubella syndrome were examined with respect to the relation between clinical symptoms and the findings of computed tomography (CT, 9/9 cases) and magnetic resonance imaging (MRI, 7/9 cases). All patients had deafness, and three had relatively severe sequelae in the central nervous system (CNS), such as mental retardation (MR), cerebral palsy (CP) or microcephaly. In four patients, dilatation of the lateral ventricles was found by CT; in four patients, low-density areas were noted in the periventricular white matter and/or the subcortical white matter; one patient showed a spotty calcified area in the lenticula. No abnormal findings were found by CT in other three patients. MRI in seven children demonstrated areas of prolonged T1 and T2 relaxation times in the white matter in all of them. In relation to clinical symptoms, five patients without dilatation of the lateral ventricles had no sequelae except deafness. On the other hand, in four patients with dilation of the lateral ventricles, three had MR, CP or microcephaly. This study showed that there was a close relation between the ventricular dilatation and sequelae with in CNS, whereas abnormal intensity areas in the white matter found by MRI were not related well to the sequelae of CNS.

Brain↗

PubMed2026

The Homozygous p.(Arg215Ter) Variant in XRCC2 Is Associated With Atypical Fanconi Anemia Without Major Hematological Abnormalities in Childhood.

Fanconi Anemia (FA) is the most frequent inherited bone marrow failure syndrome. A role for the XRCC2 gene in FA was suspected in 2012 and confirmed in 2016, but only two affected individuals have been described thus far, and no long-term follow-up is available. Here we present two young related adults born to consanguineous parents, in whom we identified the homozygous p.(Arg215Ter) variant in XRCC2. Both patients presented with mild intellectual disability, microcephaly, distinctive facial features, short stature, thumb abnormalities, and abnormal skin pigmentation. Unlike in FA, DEB test resulted negative in peripheral blood during childhood and no cytopenia, clonal evolution, or other hematological complications were detected until the age of 19 and 20 years, respectively. Our report suggests that the homozygous p.(Arg215Ter) variant in XRRC2 causes a distinctive FA-like disorder, characterized by the typical physical characteristics seen in FA, but a lack of major hematological manifestations in childhood, and the presence of a more pronounced neurodevelopmental phenotype than that seen in FA.

Humans↗

PubMed1964

THE DE LANGE SYNDROME: REPORT OF THREE CASES.

Three cases of de Lange's syndrome are described. This condition is characterized by generally severe mental retardation, reduced stature, mild microcephaly, hypertrichosis, various anomalies of hands and feet, and a peculiar facies. The most outstanding features of the latter are the low forehead, profuse, generally confluent eyebrows, abundant long eyelashes, eyes that frequently slant downwards and outwards in antimongoloid fashion, pug nose with prominent anteverted nostrils, increased distance between nose and vermilion border of upper lip, slight reduction in size of chin, and often abnormally low-placed ears. The etiology of de Lange's syndrome is at present unknown.

Adolescent↗

PubMed1985

Spastic paraparesis, mental retardation, and cutaneous pigmentation disorder. A new syndrome.

Four siblings in a family with a highly consanguineous background presented with an unusual combination of spastic paraparesis, muscle wasting, microcephaly, mental retardation, skeletal deformities, and cutaneous manifestations, ie, hypopigmented and hyperpigmented lesions and graying of the hair. An extensive workup including electromyography, muscle biopsy, and chromosomal analysis was unrewarding. An autosomal recessive inheritance is probable. A similar entity was recently reported from israel. The possibility that this previously unrecognized condition represents a new syndrome is suggested.

Adolescent↗

PubMed1988

Pediatric acquired immunodeficiency syndrome. Neurologic syndromes.

Central nervous system (CNS) dysfunction was documented in 61 of 68 infants and children with symptomatic human immunodeficiency virus infection. The most frequent manifestations included acquired microcephaly, cognitive deficits, and bilateral pyramidal tract signs. Lymphoma of the CNS, cerebrovascular accidents, and CNS infection caused by conventional pathogens were documented in only ten children (15%). Neurologic deterioration in 11 children was subacute but steadily progressive; in 31 the course was more indolent and began with a plateau. Of these 31 children, 13 had further neurologic deterioration and the conditions of three improved. Seventeen children had a static course with cognitive deficits (seven children) or cognitive plus neurologic impairment (ten children). Neuroradiologic studies in the children with a subacute progressive or plateau course disclosed cerebral atrophy, white matter abnormalities, and calcification of the basal ganglia. Postmortem findings included variable degrees of inflammatory response, multinucleated cells, calcific vasculopathy, and pyramidal tract degeneration. Computed tomographic studies of the children with a static course were normal or showed mild atrophy, but poor brain growth was documented by serial head circumference measurements.

Acquired Immunodeficiency Syndrome↗