Inclusion of joint laxity, recurrent patellar dislocation, and short distal ulnae as a feature of Van Den Ende-Gupta syndrome: a case report.

BACKGROUND: Van Den Ende-Gupta Syndrome (VDEGS) is an extremely rare autosomal recessive syndrome with less than 20 reported families (approximately 40 patients) in the worldwide literature. CASE PRESENTATION: We have assessed one consanguineous Saudi family with typical features of VDEGS. Two siblings were affected with almost identical features; including blepharophimosis, arachnodactyly, flexion contractures of the elbows, camptodactyly, slender ribs, hooked lateral clavicular ends, and bilateral radial head dislocations. Both patients had several unusual features; including joint laxity, flat feet, recurrent patellar dislocations, and bilateral short distal ulnae. Full sequencing of SCARF2 revealed a homozygous mutation c.773G > A (p. Cys258Tyr) in both affected children. The parents (both with no abnormalities) were heterozygous for the same mutation. CONCLUSION: Joint laxity, recurrent patellar dislocations, and short distal ulnae should be included as part of the clinical spectrum of VDEGS.

Long-term outcome of genital reconstruction of Middle Eastern women with congenital adrenal hyperplasia.

OBJECTIVES: There is a paucity of data on the long-term outcome of genital reconstruction of female children with congenital adrenal hyperplasia (CAH) as they become adult women. We report on the surgical outcome general condition and marriage status. MATERIALS AND METHODS: We reviewed the medical records of women 20 years or older with CAH who had genital reconstruction. We interviewed married patients utilizing the female sexual function index (FSFI-6) questionnaire and compared them to age-matched controls. RESULTS: We identified 43 women with CAH with a median age of 24.2 ± 3.9 years and a median follow-up of 23.4 ± 4.6 years. Salt wasting and the severity of virilization affected most patients, parents were commonly cousins, children were reared as boys for a protracted period and surgical reconstruction was usually complex. Only five women had married. Compared with single women, married women had significantly more frequent normal menses, emergency hospital admissions and number of repeated reconstructive surgery. There was no significant difference in FSFI score between patients and controls. Four women conceived and three gave birth to one healthy child. There was no significant difference in the number of children between patients and controls. CONCLUSIONS: CAH has a significant impact on adult women in our region. Most of the patients remain single. Few women get married and these are able to lead a nearly normal sexual life and give birth to healthy children.

Continuous subcutaneous insulin infusion in type 1 diabetic Saudi children. A comparison with conventional insulin therapy.

OBJECTIVE: To assess the efficacy and effectiveness of continuous subcutaneous insulin infusion (CSII) therapy in type 1 diabetic Saudi children in comparison with conventional insulin (CI) therapy. METHODS: Continuous subcutaneous insulin infusion was initiated in 14 Saudi children with type 1 diabetes mellitus (T1DM) through insulin pump therapy between October 2002 and June 2004. All children were followed at the Diabetes Clinic, King Faisal Specialist Hospital and Research Centre, Riyadh, Kingdom of Saudi Arabia. The patients were initially on CI therapy, which is usually defined as 2 or fewer insulin injections per day before shifting them to CSII. The patients were trained on carbohydrates counting and started on continuously basal insulin infusion aside from the meal and high blood glucose correction insulin boluses. RESULTS: The patients included in the study had T1DM for a mean duration of 6 years. The age of the children ranged from 4-18 years. They were followed on insulin pump therapy for a mean duration of 10 months. There was a significant reduction in hemoglobin A1c, mean blood glucose level, total insulin requirement, frequency of hypoglycemic episodes and frequency of diabetic ketoacidosis (DKA) events during CSII therapy. CONCLUSION: Continuous subcutaneous insulin infusion improved the glycemic control in diabetic Saudi children with decreased frequency of hypoglycemic episodes and DKA events. Long follow-up studies are needed to confirm these results.

The syndrome of septo-optic dysplasia in Saudi children.

OBJECTIVE: To describe the clinical, ophthalmological, endocrinological and radiological features of 10 Saudi children with the syndrome of septo-optic dysplasia and hypothalamic hypopituitarism. METHODS: All patients underwent complete ophthalmological and endocrinological evaluation at the Pediatric Endocrine Clinics, King Faisal Specialist Hospital and Research Center and King Fahad National Guard Hospital, Riyadh, Kingdom of Saudi Arabia, from October 1999 through to May 2004. The hormonal evaluation included growth hormone, adrenocorticotrophic hormone, thyroid stimulating hormone, gonadotropin and anti diuretic hormone testing, and the neuroradiological assessment included brain magnetic resonance imaging or computed tomogram scanning, or both. RESULTS: The current age of patients ranged from 18- months to 5-years. The mean age of initial presentation for endocrine evaluation was 14-months. Hormonal studies indicated that all children had multiple pituitary hormone deficiencies (2 or more of the pituitary hormones were deficient). Ten children had growth hormone deficiency, 8 had thyroid stimulating hormone deficiency, 8 had adrenocorticotrophic hormone deficiency, 2 children were suspected to have gonadotropin deficiency and central diabetes insipidus was present in one patient. Pendular nystagmus and impaired vision were common initial signs. All children had bilateral optic nerve hypoplasia. Neuroradiologic findings were variable. Eight children had absent septum pellucidum, 3 had pituitary gland hypoplasia, 2 had pituitary stalk dysplasia (pituitary stalk was either attenuated or not visualized), 2 had absent corpus callosum and one had absent posterior pituitary high intensity signal. All patients were replaced with appropriate hormonal replacement therapy. Two male children had micropenis which responded to testosterone therapy. CONCLUSION: The syndrome of septo-optic dysplasia is commonly associated with hypothalamic hypopituitarism including anterior and posterior pituitary hormonal deficiencies. Early diagnosis of this syndrome is critical as the hormonal deficiencies can be life threatening.

Prevalence and characteristics of celiac disease in type I diabetes mellitus in Saudi Arabia.

OBJECTIVE: To examine the prevalence of celiac disease in young patients in the Kingdom of Saudi Arabia with type I diabetes mellitus. METHODS: Serum gliadin immunoglobulin (Ig) A and reticulin IgA antibody determination was performed in 123 patients with type I diabetes mellitus attending the pediatric diabetic clinic at King Faisal Specialist Hospital and Research Centre, Riyadh, Kingdom of Saudi Arabia between 1995 and 1996. RESULTS: Elevated serum gliadin and reticulin IgA antibodies were found in the sera of 10 (8.1%) of the 123 diabetic children; none had gastrointestinal symptoms. Six of the 10 subjects had jejunal biopsy, which showed total villus atrophy. Four subjects did not undergo jejunal biopsy. The gender ratio of the biopsy positive is 5 male:1 female. All subjects with IgA positive were put on gluten free diet and normalized in a few months. CONCLUSION: The maximum prevalence of celiac disease in our population was 8.1% based on immunological marker and the minimum was 4.9% based on antibodies and biopsy results.

Persistent hyperinsulinemic hypoglycemia of infancy in 38 children.

OBJECTIVE: To describe the clinical, biochemical, radiological and electrophysiological features of 38 Saudi children with persistent hyperinsulinemic hypoglycemia of infancy that have been followed since 1983. METHODS: Data from 38 patients followed at King Faisal Specialist Hospital and Research Centre, Riyadh, Kingdom of Saudi Arabia from 1983 through to 2002 was retrospectively analyzed. Persistent hyperinsulinemic hypoglycemia of infancy was diagnosed on the basis of high intravenous glucose requirement, high insulin to glucose ratio, negative urinary ketones and normal tandem mass spectrometry. The patients were assessed radiologically by brain magnetic resonance imaging, computed tomography, or both and electrophysiologically by brain stem auditory evoked potential, visual evoked response and electroencephalogram. The patients who failed medical therapy had subtotal pancreatectomy. RESULTS: The patients were severely hypoglycemic and intolerant to fast. Hypoglycemic convulsion was the most commonly presenting complaint. Eighteen patients were developmentally delayed and 14 of them had brain atrophy. All patients, except nine, did not respond to medical treatment and had surgery. Four pancreatectomized patients developed diabetes and 2 had malabsorption. One patient was treated medically during childhood and developed diabetes and weight gain during adolescence. CONCLUSION: Persistent hyperinsulinemic hypoglycemia of infancy is a relatively common and serious disease among Saudi children. Early medical intervention is necessary to avoid neurological damage in our patients who are severely hypoglycemic and medical therapy unresponsive. Surgically and probably medically treated patients are at high risk of developing diabetes that could be the natural outcome of this disease.

Diabetes mellitus and cystic fibrosis in 2 Saudi siblings.

Diabetes mellitus and cystic fibrosis (CF) have been reported before in the literature, but they have never been reported in the same patient in the Middle East. We present the first reported case of insulin dependent diabetes mellitus (IDDM) and CF in 2 siblings of the same family. Both siblings were diagnosed early in life with IDDM, and their diabetes was well controlled on insulin. Cystic fibrosis was diagnosed in the first case one year after IDDM was diagnosed due to history of chronic cough and in the 2nd case by family screening. Both had severe failure to thrive, recurrent chest infections and gastro-esophageal reflux. With treatment both showed clinical improvement, but continued to have moderate lung disease radiologically and by pulmonary function test.