Biomedical subjects
Publications and source records attributed to M Jaffe.
We report two cases of diffuse neonatal haemangiomatosis. The multiple cutaneous lesions were associated with massive hepatic involvement and congestive heart failure in one, while in the other laryngeal haemangiomas caused stridor and inspiratory distress. A significant regression in vascular lesions was achieved with high dose corticosteroid therapy.
Twenty-two of 23 consecutive infants with bronchiolitis, 5.5 +/- 3.5 mo of age, showed a 1.9 +/- 1.4% increase in body weight, increased urinary osmolality of 737 +/- 193 mmol/L with low plasma osmolality of 275 +/- 4 mmol/L, and markedly elevated plasma antidiuretic hormone (ADH) levels of 114 +/- 225 pg/mL. Increased ADH, which usually suppresses plasma renin activity, was associated with increased plasma renin activity of 11-55 ng angiotensin 1/mL/h (normal for age less than 10 ng angiotensin 1/mL/h). Hyperaldosteronism was evident from the low fractional excretion of sodium of 0.27 +/- 0.2% and high fractional excretion of potassium of 21 +/- 15%. Serum sodium concentrations were normal. All of the pathologic findings returned to normal when the bronchiolitis subsided. A control group of 10 infants with nonrespiratory febrile illness did not show any of the above abnormalities. Thus, bronchiolitis of infancy is characterized by both increased ADH secretion and hyperreninemia with secondary hyperaldosteronism, which induce water retention but counterbalance each other with respect to serum sodium. Increased ADH secretion as well as increased plasma renin activity are not "inappropriate," but rather suggest a response to the perception of hypovolemia by intrathoracic receptors. We therefore conclude that the clinical management of bronchiolitis requires close monitoring of body wt and plasma osmolality-urinary osmolality relationship; serum sodium levels may be misleading.
Twenty-three infants aged 6 days to 9 months, sequentially referred for apnea or apparent life-threatening events (ALTE), were studied. A selective approach consisting of hospitalization, prolonged cardiorespiratory monitoring, and a graduated investigative protocol yielded positive findings in 75% of the subjects. Polysomnographic study and continuous esophageal pH monitoring were found to be the most informative. In addition to other appropriate therapeutic interventions, cardiorespiratory home monitoring was prescribed for four patients. In three nonmonitored subjects apnea recurred. Two infants died, one with homocystinuria complicated by brain hemorrhage and another with a fulminant viral infection. These investigative results and their outcome indicate that in cases of apnea or ALTE in apparently healthy infants, in-patient monitoring and evaluation is of much value. Home monitors should only be recommended in a selected group of patients, and an adequate follow-up and support system is essential.
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To test the hypothesis that lumbar puncture in viral meningitis results in symptomatic improvement, a group of 48 children was studied. Twenty-six patients had proved aseptic meningitis, and 22 had infections outside the central nervous system. Before and after lumbar puncture each subject was repeatedly scored for symptoms independently by the attending pediatrician and a parent. Marked symptomatic improvement in children with meningitis was demonstrated following lumbar puncture, while no significant change was demonstrated in the control group. The mechanism underlying this improvement is not clear; however, we consider a number of possible explanations.
The thyroid function of 44 subjects with Down syndrome who were between 2 and 51 years of age was assessed. Three patients (7%) had hypothyroidism, and in 2 of them high titers of antimicrosomal antibody were detected. Seven additional subjects (16%) had low-borderline thyroid function, 6 with elevated thyroid stimulating hormone. These 7 subjects constituted the cohort for an evaluation of the short-term benefits of thyroid hormone supplementation in the low-borderline thyroid functional state. A double-blind crossover drug placebo trial failed to document any cognitive, social, response time, or physical changes attributable to the 8- to 14-week drug treatment period compared to an untreated matched control group. Results provided no evidence for the efficacy of short-term thyroid hormone therapy for this population.
We report a rare case of arteriovenous haemangioma of the knee joint in a girl. This treatable entity should be included in the differential diagnosis of nonspecific recurrent knee swelling or pain in children.
A case of subacute meningitis caused by Brucella mellitensis is described. The meningitis was refractory to an antibiotic regime. Diagnosis was established by raised antibody titres to Brucella in serum and cerebrospinal fluid (CSF) and positive bone marrow and blood cultures. While treatment with tetracycline trimethoprim-sulfamethoxazole and streptomycin resulted in a dramatic clinical cure, the CSF findings returned only gradually to normal values over the ensuing 6 months.
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Two siblings, born to healthy non-consanguineous parents, were found to be affected with congenital progressive severe myopathy. Muscle biopsy revealed fiber type disproportion with no other histological abnormalities, thus confirming the diagnosis of congenital fiber type disproportion and suggesting an autosomal recessive mode of inheritance. This, to our knowledge, is the first reported family in which a strict histological diagnosis of congenital fiber type disproportion has been made and an autosomal recessive mode of inheritance shown.
The association of joint hypermobility and motor development was sequentially investigated in 715 infants from the ages of 8 to 14 months. Seven joints were evaluated for mobility, and each infant underwent a physical and neurological examination. Parents were given a Denver Developmental Parents' Questionnaire. All subjects with a general developmental delay, systemic illness or syndrome were excluded. The infants were classified as having normal or delayed motor development with normal or delayed joint mobility. They were re-examined six months later. Multivariate statistical techniques was used for categorical analysis, and three joints were found to be significantly associated with motor delay at the first examination--hip abduction, elbow hyperextension, and foot dorsiflexion. Of the 715 infants, 126 had joint hypermobility and of these 38 (30.2%) had motor delay. Sixty four of 589 (10.9%) with normal joints had delayed motor development. Six months later 23 out of 35 of the group with joint hypermobility and 42 out of 53 of the group with normal joints had normal motor function. Joint hypermobility is associated with an increased incidence of motor delay in infancy. Over the ensuing six months most of the subjects will catch up. These findings, indicating a favourable prognosis, have implications regarding clinical assessment and parental counselling.
A central hypoventilatory state developed in a 6-month-old boy with environmentally induced hyperthermia. The condition subsided within 24 hours of mechanical ventilation. Hypoxic and hypercapneic challenges performed 2 weeks later showed complete resolution of the respiratory chemoreceptor dysfunction. The damage to the CNS caused by accidental hyperthermia in general, and more specifically to the respiratory center, and its possible etiologic role in the pathophysiology of sudden infant death syndrome are discussed.
The relationship and possible disproportion between different cranial dimensions--head length, head circumference and biparietal diameter--body length and developmental status in normocephalic children were studied in 166 mentally retarded and 471 normal control subjects, between the ages of 3 months and 6 years. When the total cohort was analyzed, all dimensions, particularly head length, were found to be significantly reduced in the study group compared with the controls. Stratification into three age-groups revealed that in the 3- to 15-month-old subjects, head length was the most significantly reduced dimension, while in the older children body length was more significant, followed by head length. Further discriminant analysis resulted in a formula consisting of only three factors--body length, head length and age. Head circumference and biparietal diameter were noncontributory. This investigation did not support the concept of a disproportionately small head compared with height in normocephalic mentally retarded children, but rather a general growth failure mostly affecting height and head length.
We report a case of Acute Intermittent Porphyria which presented with acute abdominal distress, autonomic dysfunction and laboratory abnormalities. The treatment is discussed with special emphasis on the effect of large doses of Propranolol.
The prevalence of multiple hair whorls in a group of mentally retarded patients was 8% as opposed to 3.6% in a group of healthy children. A statistically significant relationship was demonstrated between mental retardation, multiple hair whorls, more than two dysmorphic features, and unusual dermatoglyphics. The results confirm the importance of multiple hair whorls as a genuine dysmorphic feature. The significance of these markers in the evaluation of mentally retarded subjects is discussed, with special reference to the timing of the fetal insult.
We report an unusual presentation of Henoch-Schönlein purpura in a 4-year-old boy. He presented with two isolated episodes of tender testicular swelling, and 11 months after the first episode developed a full blown picture of Henoch-Schönlein purpura accompanied by orchitis. A latent period of orchitis preceding Henoch-Schönlein purpura of this duration has not been described previously and its clinical implications are discussed.
Two boys aged six and four with the syndrome of hereditary resistance to 1,25-dihydroxyvitamin D3 with rickets alopecia and growth retardation are presented. After unsuccessful therapeutic trials with pharmacologic doses of vitamin D or its active metabolites, the patients were treated by long-term intracaval infusions of calcium through an implantable catheter. A total of 0.5 to 0.9 g of elemental calcium was infused daily for 18 months and the serum calcium concentration was maintained at 9 to 10 mg/dl. Bone pain subsided within one week of treatment. Serum phosphorus, immunoreactive parathyroid hormone, and 1,25-dihydroxyvitamin D concentrations and alkaline phosphatase activity were normalized within four to nine months. Radiographs of the knees and hands revealed progressive healing of rickets with complete resolution after one year of treatment. The patients gained 12 cm and 8 cm per year in height as compared with 3 cm and 2 cm, respectively, in the previous year. A transilial bone biopsy obtained from one patient prior to treatment revealed severe osteomalacia associated with osteitis fibrosa. A follow-up biopsy examined after 12 months of therapy showed almost complete healing of osteomalacia and normal mineralization. These observations indicate the following: (1) Long-term intracaval calcium infusions are an effective mode of therapy for these patients, and (2) When adequate serum calcium and phosphorus concentrations are maintained, healing of rickets and normal growth rate could be achieved even in the absence of a normal 1,25-dihydroxyvitamin D3 receptor-effector system.
The diagnostic classification of children with dysmorphic features involves over 200 syndromes and 232 findings, with an average of about 15 findings per syndrome. A knowledge base expressed in terms of Boolean combinations of findings is impractical. The normal Bayesian method requires a very large incidence matrix with the vast majority of cells being zero. A modified Bayesian method is proposed in which each syndrome is described in terms of its associated findings, whose incidence P (S/D) are designated as essential (0.90), prevalent (0.90), occasional (0.70) or rare (0.15), whilst P(S/-D) ranged from (0.08) to (0.10). The Bayesian calculation determines the probability of the presence P(D/S) or the absence P(-D/S) of each syndrome. The differential diagnosis consisted of all syndromes whose presence has a probability greater than 0.85. One hundred and thirty-one cases from the Hanna Khoushi Developmental Pediatrics Center at Haifa's Rothschild Hospital were considered. Of the 42 cases for which the center's specialists reached a diagnosis, the system listed the correct diagnosis for 91%. The system reached a diagnosis in about half of the remaining 89 cases. The medical literature is arranged by syndrome whilst the computer allows a case by case approach, thereby avoiding the need for the physician to consider each syndrome to see if it fits his case. This study shows that our modified Bayesian analysis is a valid method for shortening the physician's search in an area of great diagnostic complexity.