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Biomedical subjects

R H Haslam

Publications and source records attributed to R H Haslam.

At least 55 records · Page 3Linked to original sources
PubMed1980

Selective IgA deficiency with 18q+ and 18q-- karyotypic anomalies.

A case is described of selective immunoglobulin A deficiency in association with an 18q+ anomaly, apparently the result of a break at 18q23 and a de novo translocation. The presentation is compared with the phenotypic and immunological features in an IgA deficient 18q-- patient. The findings in these two patients suggest that gene(s) concerned with regulation of IgA synthesis are located on the distal long arm of chromosome 18 between 18q23 and qter.

Chromosome Mapping↗
PubMed1980

Treatment of Wilson's disease with triethylene tetramine dihydrochloride. A case report.

Wilson's disease is an autosomal recessive disorder characterized by progressive cirrhosis or neurological signs. Early detection and prompt treatment can reverse the relentless course of the disease. Treatment with D-penicillamine substantially improves the outlook for such patients unless side effects preclude its use. We report the use of triethylene tetramine dihydrochloride (Trien), a new non-sulfhydryl-chelating agent, in a girl who was unable to tolerate D-penicillamine in spite of steroid coverage. The drug has been well tolerated without side effects for approximately 2 1/2 years. Our patient's favorable clinical response would suggest that Trien is a safe alternative agent for the treatment of Wilson's disease when D-penicillamine is not tolerated.

Adolescent↗
PubMed1979

The Bowen-Conradi syndrome -- a highly lethal autosomal recessive syndrome of microcephaly, micrognathia, low birth weight, and joint deformities.

This paper describes six Hutterite children from five families who appear to have been affected by the same syndrome that was described in two brothers by Bowen and Conradi [1]. Our additional cases confirm that the major features of the syndrome include porportionate intrauterine growth retardation, microcephaly, micrognathia, a prominent nose, rocker-bottom feet, joint limitation, and failure to thrive, with death within the first year of life. Bowen-Conradi syndrome is an autosomal recessive trait and pedigree records show that all six families now known are related to each other through two couples born in the late 1700s but that there are additional earlier possible sources of the responsible gene. The differential diagnosis of this syndrome is discussed.

Abnormalities, Multiple↗
PubMed1979

Idiopathic, sustained, inappropriate secretion of ADH with associated hypertension and thirst.

A 15 year old girl presented with excessive thirst and hypertension (170/110 mm Hg). Biochemical investigations revealed serum sodium 118 meq/liter, serum osmolality 238 mosmol/liter, urine sodium 90 meq/liter, urine osmolality 700 mosmol/liter, persistenly elevated serum antidiuretic hormone (ADH) levels (5.8 to 11.9 pg/ml) and no obvious cause for the hypertension. The hypertension is, at least in part, volume-related, diminishing with fluid restriction. Features of gross water intoxication (e.g., confusion, coma) have not occurred. The etiology of the inappropriate secretion of ADH is not obvious but is not thought to be due to "resetting of osmoreceptors" as evidenced by failure to maximally dilute urine following a water load test and persistently elevated serum ADH levels. A similar patient described by Epstein and associates in 1962 is presently well with persistent features of inappropriate secretion of ADH.

Adolescent↗
PubMed1979

Autosomal dominant microcephaly.

Four families with autosomal dominant microcephaly are reported. Although the phenotype is nondistinctive, several patients had receding or small foreheads, upslanted palpebral fissures, or prominent ears. The degree of intellectual dysfunction is not as severe as that recorded in autosomal recessive microcephaly. It would appear that autosomal dominant microcephaly is more common than previously recorded, and that head circumference measurements of siblings and parents of affected patients should become a part of the initial investigation.

Adult↗
PubMed1979

Partial trisomy 4q resulting from a familial 4/3 translocation.

A case of trisomy 4q resulting from a balanced paternal translocation is described. Phenotypic similarity of cases with similar break points included hypoplastic nasal alae, short philtrum and pursed lips, and prominent ears. The birth of the proband was preceded by unexplained infertility, oligospermia in the father, and increased fetal wastage. Each of these features is an appropriate indication for cytogenetic analysis. If such an analysis had been done, the unbalanced translocation state in a liveborn, handicapped child could have been anticipated.

Child, Preschool↗
PubMed1977

The sequelae of group B beta-hemolytic streptococcal meningitis in early infancy.

The group B beta-hemolytic streptococcus is responsible for an escalating frequency of neonatal meningitis. Of the 18 consecutive cases we report in this study, the mortality was 17%. Among the 15 survivors, there were two children with extensive neurological and psychological impairment. There were no major differences between the survivors and controls in tests of hearing and language function, social skills, and psychological testing. There was a greater number of minor neurological signs among the study group. The mortality and morbidity of group B beta-hemolytic streptococcal meningitis is apparently substantially less than that of all other types of neonatal bacterial meningitis.

Bender-Gestalt Test↗
PubMed1976

Multidisciplinary management of dystonia misdiagnosed as hysteria.

Dystonia in the pediatric age group can be confused with hysteria, particularly when it occurs in an emotionally disturbed child with a negative family history of dystonia. A 20-year-old girl with a 12 year history of DMD is described. From age 12 to 17 she was housed in a mental institution after a misdiagnosis of hysteria was made. The progressive nature of DMD and the important emotional components are stressed. The multidisciplinary management model is discussed as a valuable method in the treatment of this chronic neurological disorder.

Adult↗
PubMed1975

Hyperpipecolic acidemia associated with hepatomegaly, mental retardation, optic nerve dysplasia and progressive neurological disease.

A male infant with hyperpipecolic acidemia is described. To our knowledge this is only the second report of this disorder. As with the previous case, our patient's course was characterized by persistent hepatomegaly, severe mental retardation, progressive loss of developmental milestones and diminished visual acuity associated with nystagmus, abnormal discs and retinal changes. Death occurred at 2 years of age, following a progressive loss of neurological function. Pipecolic acid was repeatedly present in the serum at a concentrattion of 4-5 mg %. Trace amounts of this compound were also detected in the urine. In addition, an adaption of the method of Piez et al. (1956) for the direct quantitation of pipecolic acid in serum was evaluated and found to be very useful for the biochemical diagnosis of this disorder.

Amino Acid Metabolism, Inborn Errors↗
PubMed1975

Trisomy-18 mosaicism with features of Russel-Silver syndrome.

A child is described who presented at 16 months with developmental delay and clinical features of the Russell-Silver syndrome. Chromosome analysis revealed trisomy-18 mosaicism. Only one other similar case has been reported in the literature. It is recommended that chromosomal studies continue to be included in the clinical investigation of children with Russell-Silver syndrome.

Abnormalities, Multiple↗
PubMed1975

'Progressive cerebral palsy' or spinal cord tumor? Two cases of mistaken identity.

The misdiagnosis of cerebral palsy in children with neurological impairment is relatively common, although it is particularly untenable if the child's symptoms run a progressive course. This paper reports two children with presumed 'progressive' cerebral palsy who at later evaluation were found to have intramedullary tumors of the cervical spinal cord. The report is intended to alert pediatricians to the atpyical presentation and insidiuos progression of spinal cord tumors in children. Whether or not the child has cerebral palsy, any progressive deterioration of function in the extremities, complaints of back pain, loss of sphincter control, or sensory abnormality, warrants a thorough neurological examination and specific radiological procedures to exclude the possiblility of a spinal cord tumor.

Cerebral Palsy↗