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PubMed1991

Maternal phenylketonuria syndrome in cousins caused by mild, unrecognized phenylketonuria in their mothers homozygous for the phenylalanine hydroxylase Arg-261-Gln mutation.

Intrauterine growth retardation, microcephaly, and developmental delay in two first cousins lead to the recognition of phenylketonuria (PKU) in their mothers, 24- and 23 year-old sisters with blood phenylalanine concentrations of approx. 1.2 mmol/l who had never been treated and had no overt mental retardation. Both mothers were shown to be homozygous for a point mutation leading to an Arg-to-Gln substitution at codon 261 of the phenylalanine hydroxylase gene, a mutation which has been recently identified and tentatively associated with a mild variant of PKU. Our observation suggests that homozygosity for the Arg-261-Gln mutation can indeed result in "mild" PKU with little or perhaps no mental retardation, but also indicates that in such women, who may go unrecognized if not screened for, blood phenylalanine is elevated enough to cause the maternal PKU syndrome in their offspring.

Adult↗

PubMed1993

Long-term outcome in 134 patients with galactosaemia.

In a retrospective study 134 galactosaemic patients, born between 1955 and 1989 in the Federal Republic of Germany were traced and their long-term outcome evaluated. We investigated 83 galactosaemic patients (78 homozygotes, 5 compound heterozygotes) by clinical, psychometric and laboratory testing; 31 patients were evaluated by medical history, the remaining 20 patients had died due to sequelae of the underlying disease. In 48 out of 78 classical galactosaemia patients galactose-free therapy had been started before the 15th day, in 19 between days 15 and 56 and in 11 patients after the 56th day. Physical findings revealed that puberty was delayed in 1 out of 18 males and 6 out of 11 females. Neurological abnormalities included ataxia (n = 6), intention tremor (n = 11) and microcephaly (n = 10). Speech abnormalities were found in 43 out of 66 patients over 3 years of age and disturbance of visual perception and/or arithmetic deficits in 29. Intelligence declined with age, i.e., a DQ or IQ less than 85 was found in 4 out of 34 patients less than 6 years of age (12%), in 10 out of 18 between 7 and 12 years (56%) and in 20 out of 24 older than 12 years (83%). Metabolite patterns (RBC galactose-1-phosphate and UDP-galactose, plasma and urinary galactitol) did not correlate with DQ or IQ. Dietary compliance was good in almost all patients. Compound heterozygotes (n = 5) had normal mental and growth development and all laboratory parameters were in the normal range.(ABSTRACT TRUNCATED AT 250 WORDS)

Adolescent↗

PubMed1989

[Prenatal diagnosis of neural tube defects and clinical consequences].

Today, ultrasound is the most important method for antenatal recognition of defects of the central nervous system. This article reports our 17 years experience in antenatal diagnosis and management of neural tube malformations. A total of 103 neural tube defects were diagnosed, including anencephaly (36), rachischisis (31), encephalocele (13), microcephaly (11), and hydrocephalus (35). Ultrasonic findings, clinical histories, and management are reviewed.

Anencephaly↗

PubMedDate not supplied

Genetic analysis of a group of mentally retarded children.

Genetic analysis of 169 mentally retarded (MR) children from Madras, revealed chromosomal abnormalities in 17%. Down syndrome was the major chromosomal anomaly (24/169 = 14.2%). These included three cases of trisomy-21 mosaics, and one case of de novo Robertsonian translocation. MR children with chromosomal abnormalities were either mildly or moderately retarded. Syndromes with known etiology occurred in 3% of the MR cases. Microcephaly, neonatal anoxia, perinatal stress and pharmacological attempt for abortion were found to be important pathogenic factors associated with MR. Most of the microcephalics (11/169 = 6.5%) were severely retarded, whereas those associated with neonatal anoxia and perinatal stress were either mildly or moderately retarded. Birth-order effects were found only among Down syndrome patients. Segregation analysis of the three groups of proband families (viz. mild, moderate and severe MR) indicated that autosomal recessive mode of inheritance is compatible in moderate and severe MR proband families. The proportion of X-linked instances of MR is estimated to be about 22% of the cases.

Child↗

PubMed2006

Unbalanced X; autosome translocation.

Unbalanced X; autosome translocation can result in multiple congenital abnormalities/mental retardation syndrome due to chromosomal imbalance. Here is described a patient with developmental delay, microcephaly, agenesis of corpus callosum, spasticity, seizures and dysmorphism as a result of meiotic malsegregation of balanced X; autosome translocation in mother. Present case signifies the importance of chromosomal analysis in a patient with developmental delay/ mental retardation and discuss lyonization in cases with X; autosome translocation.

Agenesis of Corpus Callosum↗

PubMedDate not supplied

Cerebral palsy--an etiological study.

Five hundred and forty four cases of cerebral palsy were studied to find the etiology. Male to female ratio was 1.9:1. Prenatal, natal and postnatal factors were found in 42 (7.72%), 238 (43.75%) and 142 (26.1%) cases respectively. Only 79 (14.52%) cases were found to have more than one factor which could have contributed to brain damage. In 43 (7.9%) cases the prenatal, natal and postnatal history were normal and the cause was not known. Toxemia (1.29%) cases and microcephaly (1.84%) cases were the most common etiological factors in the prenatal category. Among the natal causes, birth anoxia was the most common etiological factor and was observed in 24.45% cases. Infections of the central nervous system comprised the major etiopathogenetic factors of the postnatal causes--11.95% cases had encephalitis, while 5.15% cases had meningitis. In cases where more than one etiology was present, the most frequent causes were a combination of prematurity or birth anoxia in association with toxemia, antepartum hemorrhage, prolonged labour, twins, forceps or caesarean delivery. Anoxia was consistently the most common etiological factor in those cases of monoplegia paraplegia, quadriplegia, diplegia, and ataxia, i.e. in 0.55%, 1.29%, 11.76%, 6.07% and 0.55% cases respectively. The present study reveals that majority of the cases were found to have natal or post natal etiology.

Cerebral Palsy↗

PubMed2003

T-cell prolymphocytic leukemia with autoimmune manifestations in Nijmegen breakage syndrome.

Nijmegen breakage syndrome (NBS) is characterized by growth retardation, microcephaly, mental retardation, immunodeficiency, and predisposition to malignancies, especially B-cell lymphomas. In contrast, leukemia is rare. A 23-year-old NBS patient presented with anemia, thrombocytopenia, and hyperlymphocytosis. The diagnosis of T-cell prolymphocytic leukemia (T-PLL) was confirmed by cytological and immunological assays (TdT(-), CD2(+), CD5(+), CD3m, and CD7(+)). Biological assays also showed a hemolytic anemia and a clotting factor V decrease. The patient was first treated by methylprednisone for 3 weeks. During this period the lymphocyte count decreased. The simultaneous normalization of the hemolysis and of factor V suggested that both could be related to T-PLL. Since T-PLL is refractory to conventional therapies with a poor prognosis, an intensive chemotherapy such as 2'-deoxycoformycin with anti-CDw52 monoclonal antibodies is usually favored. In the present case, however, because of the specific context (i.e., NBS-induced immunodepression, severe hemolytic anemia, and acquired factor V deficiency), he received pentostatin weekly during 1 month and in maintenance during 6 months. At last follow-up (7 months) he showed a persistent control of the lymphocytosis with no side effect.

Adolescent↗

PubMed2005

Widened clinical spectrum of the Q128P MECP2 mutation in Rett syndrome.

CASE REPORT: We describe a female patient with Arnold Chiari type I malformation, atypical Rett syndrome characterized by postnatal onset microcephaly, stereotypic hand movements, ataxia, severe developmental delay, intractable tonic-clonic seizures, and a MECP2 mutation with a unique set of clinical findings. Implementation of a ketogenic diet resulted in decreased seizure activity and an improvement in the patient's degree of social relatedness with her family members. DISCUSSION: An early diagnosis of Rett syndrome allows families to maximize utilization of existing treatment modalities and seek appropriate genetic counseling and prenatal diagnoses. This case also provides further evidence for the treatment benefit of ketogenic diets for seizures in patients with Rett syndrome.

Arnold-Chiari Malformation↗

PubMedDate not supplied

Ponto-cerebellar hypoplasia with dystonia: clinico-pathological findings in a sporadic case.

Microcephaly, absent psychomotor development and dystonic limb movements were the main clinical features of a 3-year-old girl affected by hypoplasia of the pontocerebellar structures. As in the few previously reported cases there are discrepancies between the severity of lesions in the supratentorial and infratentorial compartments. Pathological features such as size reduction of the ventral pons, inferior olive atrophy, dentate nucleus fragmentation, and thinning of the cerebellar cortex suggest an impaired maturation of the involved structures due to a prenatal condition (dated at about 20-28 weeks of gestation). Somatotopic analysis failed to provide conclusive evidence on the primary target of the disease. The affected structures originate from the dorsal rhombencephalic region at about the same gestational age, and their maturation is probably under the control of sets of genes which regulate pattern formation. Early abnormal functioning of such genes might lead to the selected morphogenetical alterations observed in ponto-cerebellar hypoplasia. The normal morphogenetic pattern of the supratentorial structures and the mild lesions observed suggest that their late involvement can be related to a different pathogenetic process.

Atrophy↗

PubMed1998

Congenital olivopontocerebellar atrophy: report of two siblings with paleo- and neocerebellar atrophy.

We report two sisters with congenital olivopontocerebellar atrophy, including immunohistochemical studies of autopsy brain tissue. Both cases showed microcephaly with disproportionately marked hypoplasia of the posterior fossa structures including pons, inferior olivary nuclei, and cerebellum. Microscopically, the pons was atrophic with near total loss of pontine nuclei and transverse pontocerebellar tracts (inferior and middle cerebellar peduncles). The medulla showed absent inferior olivary and arcuate nuclei. The cerebellum showed hypoplasia with rudimentary dentate nuclei, profound loss of Purkinje cells and external granule cell layer, a sparse internal granule cell layer of the entire dorsal vermis and the dorsal portions of the lateral folia, as well as markedly reduced underlying axon fibers in the white matter with marked astrogliosis. These features were highlighted by immunohistochemical study using antibodies against Purkinje cell epitopes, synaptophysin, neurofilament, glial fibrillary acidic protein, and tuberin. The cerebral hemispheres were unremarkable. Our cases are characterized by a pattern of diffuse posterior cerebellar involvement that has rarely been described in previous reports. An autosomal recessive pattern of inheritance is suggested. The abnormalities may result from antenatal degeneration or atrophy of neurons in the involved sites rather than hypoplasia or developmental arrest starting in the second and third month of late embryonic life.

Biomarkers↗

PubMed1999

Aicardi-Goutières syndrome: a genetic microangiopathy?

Aicardi-Goutieres syndrome (AGS) (McKusick 225750) is an autosomal recessive disease with onset in the 1st year of life, resulting in progressive microcephaly, calcification of cerebral white matter, thalamus and basal ganglia, generalized cerebral demyelination and a chronic low-grade CSF lymphocytosis, without evidence of infection. We report the autopsy of a patient who died with this disorder at the age of 17 years. Findings were severe microencephaly, diffuse but inhomogeneous cerebral white matter loss with associated astrocytosis, calcific deposits in the white matter, thalami and basal ganglia. Neocortex and cerebellar cortex were affected by wedge-shaped microinfarctions. Small vessels showed calcification in the media, adventitia and perivascular spaces. These findings are similar to some previous publications that in retrospect may have been AGS, but this is the first reported cerebral microangiopathy in which the diagnosis AGS was made during lifetime. This report provides evidence that microangiopathy plays a significant role in the pathogenesis of AGS.

Adolescent↗

PubMed2000

Leukotriene C4 synthesis deficiency: a member of a probably underdiagnosed new group of neurometabolic diseases.

UNLABELLED: Leukotrienes (LTs) are a group of biologically highly active compounds which mainly include the cysteinyl leukotrienes LTC4, LTD4, LTE4 and LTB4. Biosynthesis is limited to a small number of different cells including brain tissue. Besides their well known function in the mediation of inflammation and host defence, cysteinyl LTs have neuromodulatory functions in the brain. Here we describe the recently discovered first two cases with a defect in the synthesis of LTs, LTC4 synthesis deficiency which is characterised by severe muscular hypotonia, psychomotor retardation, failure to thrive, microcephaly, and by the total absence of cysteinyl LTs in body fluids and deficient synthesis of the primary cysteinyl LT, LTC4, in blood cells. We describe the clinical and biochemical findings as well as the pathophysiological aspects of this condition and of further defects suggested in the synthetic pathway of LTs. Moreover, certain disease states which are known to be associated with secondary disturbances of LT degradation are also discussed. CONCLUSION: Leukotriene C4 synthesis deficiency represents a member of a newly recognised group of neurometabolic disorders which are probably underdiagnosed. Analysis of leukotrienes is recommended in all patients with neurological symptoms who have no apparently obvious metabolic cause.

Brain↗

PubMed1999

Cerebral palsy and pyruvate dehydrogenase deficiency: identification of two new mutations in the E1alpha gene.

UNLABELLED: Pyruvate dehydrogenase (PDH) complex deficiency, a common cause of congenital lactic acidosis, is mostly due to mutations in the X-linked gene coding for the E1alpha subunit of the complex. We have studied two unrelated girls presenting a static encephalopathy with spastic quadriplegia, microcephaly and seizures and in one girl, hypocalcaemia, a new finding in PDH complex deficiency. PDH deficiency was diagnosed in adolescence and both girls had low PDH complex activity in muscle but normal amounts of all subunits on Western blotting, and a normal lactate/pyruvate ratio in blood and CSF. Mutation analysis of the E1alpha gene at the cDNA or DNA level revealed an arginine to histidine substitution at amino acid position 288 (R288H) in the girl with hypocalcaemia and a 12 bp insertion, predicting a four amino acid duplication at the c-terminal end of the protein in the second girl. They both carried a normal and a mutated E1alpha gene and X-inactivation studies showed skewed patterns. CONCLUSION: Mutation identification in pyruvate dehydrogenase complex deficiency remains important especially for the determination of the recurrence risk and for reliable genetic counselling in couples with an affected child.

Acidosis, Lactic↗

PubMed1999

46, XY, del (3) (pter-->p25) syndrome: further delineation of the clinical phenotype.

A boy with monosomy for the distal part of the short arm of chromosome 3 is described. The clinical features this patient has in common with the previously reported cases include pre- and post-natal growth delay, microcephaly, craniofacial dysmorphism and mental retardation. In addition, minor abnormalities not previously reported were observed, such as snapping thumbs, dorsiflected big toes, connecting anterior and posterior fontanelles at birth, nasolacrimal duct stenosis and double urethral meatus. Conclusion These five new clinical findings may help in further delineation of the syndrome and allow its early recognition. A complete revision of clinical findings published in literature is reported.

Abnormalities, Multiple↗

PubMed2002

Another autosomal recessive form of focal glomerulosclerosis with neurological findings.

We report four patients in a consanguineous family with focal segmental glomerulosclerosis (FSGS), early onset nephrotic syndrome, eventual end-stage renal failure, psychomotor retardation, seizures and microcephaly or brain atrophy without hiatus hernia. Other characteristic dysmorphic features were convergent strabismus and narrow forehead. One patient had enamel hypoplasia of the upper incisors and deviation of bilateral thumbs to palm side. We could not detect an NPHS2 mutation in this family. We propose that this may be another autosomal recessive syndrome with FSGS and neurological findings.

Atrophy↗

PubMed1981

Comparison of ultrasound femur length and biparietal diameter in late pregnancy.

A linear relationship between growth of fetal femur length (FL) and biparietal diameter (BPD) after 22 weeks' gestation is described. The normal ratio of femur length to BPD (FL/BPD ratio) was found to be 79 +/- 8%. Effective uses of the FL/BPD ratio include its use as a quality control check on femur length and BPD measurements and its use to diagnose short-limbed dwarfism, hydrocephalus, and microcephaly. Pregnancy dating by means of BPD can now be cross checked by use of femur measurements and new observations on normal and abnormal fetal growth will now be possible.

Dwarfism↗

PubMed1982

Maternal phenylketonuria--results of dietary therapy.

Untreated maternal phenylketonuria (PKU) may result in nonphenylketonuric offspring with mental retardation, microcephaly, congenital heart disease, and low birth weight. We obtained information about 34 pregnancies in which dietary therapy was instituted to lower the concentration of phenylalanine in maternal blood in an attempt to avoid fetal damage. The outcomes varied from mental normality with no evidence of fetal effect to neonatal death due to congenital heart disease. Dietary therapy with control of the maternal biochemical abnormalities is not yet of proved efficacy in preventing these fetal effects. The available data tend to support initiation of dietary therapy prior to conception for best results, but the number of cases is small and points to the need for further research.

Adult↗

PubMed1977

Sclerocornea associated with the Smith-Lemli-Opitz syndrome.

A 2,000-g infant boy had many features of the Smith-Lemli-Opitz syndrome (prenatal growth deficiency and developmental retardation, microcephaly with unusual facies, hypospadias, and feeding difficulties) as well as sclerocornea. The association of this rare eye finding with this rare congenital syndrome is unique. Successful penetrating keratoplasty was performed in one eye at 8 months of age.

Abnormalities, Multiple↗