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Biomedical subjects

A Shuper

Publications and source records attributed to A Shuper.

At least 55 records · Page 3Linked to original sources
PubMed1989

Radiological colpocephaly: a congenital malformation or the result of intrauterine and perinatal brain damage.

The term colpocephaly, meaning disproportional enlargement of the occipital horns of the lateral ventricles, was considered in the past to be a distinct congenital malformation acquired in early intrauterine life. During the last few years several cases were reported in whom a variety of intrauterine and perinatal causes could be associated with this radiological picture. We report on 9 children with radiological colpocephaly in whom intrauterine and/or perinatal injury to the developing brain seemed to be the cause of colpocephaly. It is evident from our observations that "radiological colpocephaly" is a non-specific finding caused frequently by CNS damage acquired during intrauterine and perinatal life.

Brain Diseases↗
PubMed1988

Osteopathia striata, cranial sclerosis with cleft palate and facial nerve palsy.

Osteopathia striata (OS) is a rare bone dysplasia characterized by longitudinal sclerotic striations of the long bones. It is of no clinical importance, but OS associated with cranial sclerosis represents a separate entity with a high incidence of palatine malformations and deafness. Only 19 cases of this entity have been reported in the literature. One patient of this series also had facial nerve paralysis. This paper presents a second case of OS, cranial sclerosis, palatine pathology and recurrent facial nerve paralysis. This incidence of 2/20 (10%) does not seem to be coincidental but raises the possibility that facial nerve palsy is one of the clinical manifestations of this specific bone abnormality.

Bone Diseases↗
PubMed1987

Benign congenital hypotonia. A clinical study in 43 children.

The clinical features and short-term follow-up of benign congenital hypotonia (BCH) were studied in a group of 43 children. All children were referred for the evaluation of delayed motor performance during the first year of life. The hypotonia was mild in 35 children and moderate in 8. A "sitting-on-air" posture was found in 26 children (60%), and bottom shuffling (scooting) in 8 (19%). Thirty-six children were followed to the end of their third year of life. At this age minor neurological abnormalities could be found in 16 (44%) including hypotonia in 7, clumsy gait in 11 and speech delay in 3. In 30% of the cases there was a family history of delayed motor achievements. However, no significant differences were found between familial and non-familial cases regarding either clinical presentation or residual neurological findings. In view of the similarity in the clinical presentation of different causes of infantile hypotonia, the syndrome of BCH should be recognized. In such cases, because of the expected benign course, invasive diagnostic procedures may be withheld while the child is kept under follow-up, and be considered only in cases without complete recovery.

Child Development↗
PubMed1987

Postaxial polydactyly in association with neurofibromatosis.

Von Recklinghausen neurofibromatosis may present many skeletal abnormalities as common features. We describe a family with postaxial polydactyly and neurofibromatosis, an association which has not been previously reported. The special characteristics of postaxial polydactyly of this family were its bilateral and symmetrical appearance, its limitation only to males, simultaneous presence of types A and B in the same patient, and its occurrence in both hands and feet. Postaxial polydactyly type A appeared only in the affected neurofibromatotic members of this family.

Female↗
PubMed1987

Noonan's syndrome and neurofibromatosis.

A child with Noonan syndrome and multiple cafe au lait spots, compatible in size and number with von Recklinghausen's neurofibromatosis, is presented. These features may represent a distinct genetic entity rather than the coincidence of two diseases.

Child↗
PubMed1987

Familial Hashimoto's thyroiditis with kidney impairment.

A 12 year old boy and his two sisters with Hashimoto's thyroiditis and renal impairment were studied. Three generations of this family had autoimmune thyroid disease: Graves' disease was diagnosed in the first generation, and the second and third generations had thyroid enlargement with abnormal thyroid function and immunological abnormalities. The disease in this family could not be explained simply by the types of human leucocyte antigens found. Renal disease in autoimmune thyroid disease is uncommon, treatment difficult, and the prognosis unknown. The proteinuria disappeared in all three children during the three and a half years of follow up, which implies that the renal impairment may be transitory in some patients.

Female↗
PubMed1987

Fixed drug eruption of the penis due to co-trimoxazole.

Fixed eruption of the penis, due to co-trimoxazole, is described in two boys. The eruption was accompanied by severe swelling of the penis, urine retention, and pain during micturition. The migration inhibiting factor assay for co-trimoxazole was negative, but the mast cell degranulation test was strongly positive, suggesting reaginic hypersensitivity reaction.

Child↗
PubMed1986

The diagnosis of Dubowitz syndrome in the neonatal period--a case report.

We present an infant with Dubowitz syndrome diagnosed at birth and followed for 2 years. Presence of the syndrome was suspected at birth on the basis of the anthropometric data and peculiar facial appearance. However, during the follow-up period some changes in the appearance have taken place. It is suggested that the neonatal anthropometric measurements are important diagnostic criteria for Dubowitz syndrome.

Age Factors↗
PubMed1986

Adrenocortical suppression by topical application of glucocorticosteroids in infants with seborrheic dermatitis.

Fifteen infants with seborrheic dermatitis were treated with topical glucocorticosteroids (flumethasone pivalate 0.02%). Early morning plasma cortisol levels were determined prior to treatment, during the 10-day treatment period, and 2 days after its termination. The mean plasma cortisol level prior to treatment was 8.8 +/- 3.4 micrograms%; after 2 days of application there was a significant decrease of the mean to 2.5 +/- 1.3 micrograms% that persisted throughout the treatment period. Two days after termination of treatment, the mean plasma cortisol level rose to 7.1 +/- 3.7 micrograms% but in five infants was still less than 5 micrograms% and in two less than 2 micrograms%, the latter two having shown the greatest involvement of the skin. The possibility of pituitary/adrenocortical inhibition similar to that observed with the systemic administration of glucocorticosteroids and the potential associated risks should be considered when treating cases that would require extensive application of flumethasone pivalate in infants.

Absorption↗
PubMed1986

Deciduous tooth eruption in children who fail to gain weight.

In order to investigate the usefulness of the number of erupted deciduous teeth (NET) as a growth parameter, we studied deciduous tooth eruption (DTE) in 46 infants between the ages of 6 and 30 months, who failed to gain weight. The cause of the failure to thrive was intrauterine growth retardation in 17 children, and undetermined in 29. In these babies, height and head circumference were significantly below the mean as well. However, NET was almost unchanged when compared to NET of Israeli children of the same age. These findings support the view that DTE is an independent process, unrelated to other anthropometric measurements. Thus, NET may not be used as a clinical parameter of physical development.

Body Height↗
PubMed1985

The incidence of isolated craniosynostosis in the newborn infant.

The incidence of isolated, nonsyndromatic craniosynostosis in a newborn population was found to be 0.6 per 1,000 live births. The distribution by anatomic types was metopic suture, 50%; sagittal suture, 28%; coronal suture, 16.5%; and lambdoid suture, 5.5%. We found a higher incidence of trigonocephaly than has been reported previously.

Craniosynostoses↗
PubMed1985

Retarded skeletal maturation in children with primary enuresis.

Primary nocturnal enuresis (PNE) is a common paediatric problem of multifactorial aetiology. Growth and skeletal maturation were studied in 35 otherwise healthy children with PNE, 26 boys and 9 girls aged 6-14 years, and comparison was made with a control (CTR) group of 19 boys and 3 girls aged 6-13 years of similar ethnic origin. There was no significant difference between the mean height and weight centiles of the two groups. Bone age (BA) determined by the TW-2 method showed a significant lag behind chronological age (CA); the CA-BA difference being 1.46 +/- 1.56 years in the PNE group and -0.08 +/- 0.8 years in the CTR group (P less than 0.001). In 11 of the PNE group (31%) the BA retardation was greater than 24 months: in 4 it was between 24 to 36 months and in 7 the difference was greater than 36 months. In all these children T4 and TSH were found to be normal. It is hypothesised that the retarded bone age in children with PNE may reflect delayed maturation of regulatory CNS functions.

Adolescent↗