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1.
Clin Dysmorphol ; 8(1): 29-40, 1999 Jan.
Article in English | MEDLINE | ID: mdl-10327249

ABSTRACT

We present here extensive clinical and biochemical data on thirteen SLOS (type I) patients with proven defect in cholesterol biosynthesis for further delineation of the classical SLOS phenotype at different patient ages.


Subject(s)
Aging/pathology , Smith-Lemli-Opitz Syndrome/metabolism , Smith-Lemli-Opitz Syndrome/pathology , Aging/metabolism , Anthropometry , Cholesterol/biosynthesis , Female , Humans , Male , Phenotype , Smith-Lemli-Opitz Syndrome/physiopathology
2.
Int J Dermatol ; 37(12): 911-7, 1998 Dec.
Article in English | MEDLINE | ID: mdl-9888331

ABSTRACT

BACKGROUND: Tuberous sclerosis complex (TSC) is an autosomal dominant disorder characterized by widespread cutaneous and visceral hamartomas. METHODS: The prevalence of cutaneous lesions in 106 children with TSC (47 boys and 59 girls) aged 1 month-18 years was evaluated from 1984 to 1995. Assessing the diagnostic usefulness of each National Tuberous Sclerosis Association skin criterion was an aim of this study. RESULTS: Hypopigmented macules were the most frequent finding, seen in 103 of 106 children (97.2%). In 66 children they were evident at birth, and in 20 others their presentation was delayed until the first months of age. Facial angiofibromas were seen next most often (79 of 103, 74.5%), followed by a shagreen patch in 51 of 103 (48.1%), "cafe-au-lait" macules in 30 of 103 (28.3%), molluscum fibrosum pendulum (24 of 103, 22.6%), a forehead fibrous plaque (20 of 103, 18.9%), periungual fibromas (16 of 103, 15.1%) and "confetti-like" macules (3 of 103, 2.8%). The hypomelanotic macules were seen within the first 2 years of life in 95 children, as were café-au-lait spots in 24, facial angiofibromas in eight, shagreen patches in six, and forehead fibrous plaques in six, whereas molluscum pendulum and periungual fibromas were not evident. Seizures were seen in 102 of 106 children (98%), with 80 (75%) occurring during the first year of life. CONCLUSIONS: Hypomelanotic macules were the overwhelmingly most common early finding in TSC. Infants with seizures or other possible stigmata of TSC should be carefully evaluated for these hypomelanotic macules, as well as for other associated findings.


Subject(s)
Skin Diseases/complications , Tuberous Sclerosis/complications , Adolescent , Child , Child, Preschool , Female , Humans , Infant , Male , Skin Diseases/pathology , Tuberous Sclerosis/pathology
3.
J Ment Defic Res ; 32 ( Pt 1): 79-82, 1988 Feb.
Article in English | MEDLINE | ID: mdl-3129563

ABSTRACT

This report analyzes the clinical and electrophysiological results of the carpal tunnel release operation in mentally retarded children with mucopolysaccharidoses and discusses the needs for early surgical intervention.


Subject(s)
Carpal Tunnel Syndrome/surgery , Median Nerve/surgery , Mucopolysaccharidoses/complications , Tendons/surgery , Child , Child, Preschool , Combined Modality Therapy , Female , Humans , Male , Median Nerve/physiopathology , Neural Conduction , Physical Therapy Modalities , Postoperative Complications/physiopathology
5.
Neurol Neurochir Pol ; 20(2): 89-94, 1986.
Article in Polish | MEDLINE | ID: mdl-3095672

ABSTRACT

Clinical observations and results of investigations of pyruvic acid metabolism are reported in 4 children in whom subacute necrotizing encephalomyelopathy of Leigh was diagnosed intravitally. Attention is called to the similarity of the clinical manifestations with its onset in the first year of life, deficient body weight and growth, progressing neurological disturbances (weakening of muscle power, tremor, ataxia, nystagmus), course with periods of exacerbations, tachypnoea, skin changes (hirsutism, telangiectasia, perspiration), death at the age of 2-3 years. The biochemical changes in all children included raised serum levels of lactic acid, pyruvic acid and alanine, and acid-base equilibrium disturbances with metabolic acidosis (relatively balanced respiratory alkalosis). The results of the test of intravenous loading with glucose and alanine carried out in all children indicated indirectly reduced activity of pyruvate carboxylase. In one child histological examination of the brain carried out postmortem confirmed the diagnosis of Leigh's disease.


Subject(s)
Brain Diseases, Metabolic/etiology , Leigh Disease/etiology , Metabolism, Inborn Errors/complications , Pyruvate Carboxylase Deficiency Disease , Child, Preschool , Female , Humans , Infant , Leigh Disease/diagnosis , Male , Metabolism, Inborn Errors/diagnosis , Pyruvates/metabolism
9.
Probl Med Wieku Rozwoj ; 9: 319-23, 1979.
Article in Polish | MEDLINE | ID: mdl-122444

ABSTRACT

The aim of the study was to compare the effect of phenobarbital given to pregnant rabbits and of epileptic seizures on the course of pregnancy, the physical state, and central nervous system development of newborns. Phenobarbital was given orally during whole pregnancy or for the last ten days in amounts 18,5 mg/kg/body weight = 0,1 DL 50. Seizures of "grand mal" type were evoked with electrostimulator every day since the tenth day of pregnancy. Phenobarbital penetrates via placenta, reaches the organs of all fetuses, and seizures provoke hypoxaemia of fetuses. Phenobarbital administered during whole pregnancy exerts an teratogenous effect. Both injurious factors applied after teratogenous period cause a retardation of general development of fetuses. After phenobarbital administration slight brain lesions are visible in the light, electron microscopical and histochemical examination. More evident was the retardation of the development of the central nervous system after both of the examined injurious factors. In the brain stem and in the cortex the neurons are less mature and the synaptic junctions in the cortex are less numerous. In our experimental models phenobarbital seems to evoke more noxious effect than seizures in mothers.


Subject(s)
Brain Stem/embryology , Cerebral Cortex/embryology , Epilepsy, Tonic-Clonic/complications , Maternal-Fetal Exchange , Phenobarbital/toxicity , Pregnancy Complications , Anencephaly/chemically induced , Animals , Female , Fetal Growth Retardation/etiology , Fetal Hypoxia/complications , Fetal Hypoxia/etiology , Fetal Organ Maturity/drug effects , Pregnancy , Rabbits
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