Spontaneous improvement of severe neonatal hyperparathyroidism after failed total parathyroidectomy.

We report an interesting case of severe neonatal hyperparathyroidism (SNHP) treated by sub-total parathyroidectomy, as her fourth parathyroid gland could not be identified. The clinical course changed over time to a more benign course resembling familial hypocalciuric hypercalcemia. This indicates that the natural course of SNHP is probably gradual spontaneous improvement, if patient survives the first few months of life.

Permanent neonatal diabetes mellitus: epidemiology, mode of presentation, pathogenesis and growth.

Permanent neonatal diabetes mellitus (PNIDDM) is a rare form of IDDM with unclear etiology and pathogenesis. We determined the incidence and prevalence rates and studied the clinical and biochemical features of PNIDDM in the Sultanate of Oman. The mean incidence rate during the study period from January 1989 to December 1994 was 1.788 +/- 0.82 per 100,000 live births per year. At the end of December 1994 the prevalence rate was 2.4 per 100,000 children below the age of 5 years. They constituted 41.6% of all cases of IDDM in this age group. Diarrhoea, fever, lethargy, poor feeding and failure to thrive were the most common presenting symptoms. Dehydration and tachypnoea were the most common signs. All patients who developed IDDM during the neonatal period had intrauterine growth retardation and 4.5 presented with diabetic ketoacidosis (plasma glucose 37 +/- 9 mmol/L, pH 7.12 +/- 0.1). Hypertriglyceridemia was a constant feature (19.4 +/- 4.8 mmol/L). They were products of consanguineous marriage with significantly high prevalence of IDDM and NIDDM in their family members. None of the infants had clinical or immunological evidence of congenital viral infection. Three of the five children had HLA-DR2, the diabetes resistance alleles. C-peptide secretion was absent during and after metabolic control of hyperglycemia in all the studied infants and none had circulating islet cell antibody at presentation or during the first year after diagnosis. Despite marked growth retardation at birth, there was a significant improvement of growth after initiating insulin therapy. Four of the 5 patients had normal developmental milestones, one had mild developmental delay following a severe and prolonged attack of hypoglycemia. None of the patients had exocrine pancreatic deficiency. In summary, the very high rate of parental consanguinity, occurrence in both sexes and in two siblings in the same family, absence of islet cell antibodies and the presence of HLA-DR2 loci in 3/5 of patients suggest that PNIDDM is a different disease process to standard IDDM in childhood and an autosomal recessive mode of transmission.

Congenital lobar emphysema: a review of 10 cases.

We reviewed the clinical features and management of 10 patients with congenital lobar emphysema (CLE) treated in our institution over a period of seven years, from September 1988 to September 1995. The age of onset of symptoms ranged from few days from birth to six months. Correct diagnosis was made in only 4 patients before referral, even though diagnosis could have been arrived at from the chest radiograph in all of them. Lobectomy was done in seven patients, while one patient had vascular ring resected. Of the three patients managed conservatively, in one lobectomy was performed at the end of 5 months conservative course as her clinical condition deteriorated during an intercurrent chest infection. Of the remaining two, one has mild episodic reactive air way disease and the other patient is asymptomatic.