To describe the clinical, ophthalmological, endocrinological and radiological features of 10 Saudi children with the syndrome of septo-optic dysplasia and hypothalamic hypopituitarism.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.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.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.
Abstract Familial hypercholesterolemia (FH) is an autosomal dominant disease predominantly caused by a mutation in the low-density lipoprotein receptor ( LDLR ) gene. Here, we describe two severely affected FH patients who were resistant to statin therapy and were managed on an apheresis program. We identified a novel duplication variant c.1332dup, p.(D445*) at exon 9 and a known silent variant c.1413A>G, p.(=), rs5930, NM_001195798.1 at exon 10 of the LDLR gene in both patients.
steogenesis imperfecta (OI) is a genetic disorder of type-I collagen, which is one of the most prevalent osteoporotic syndromes in children. It is characterized by repeated fractures and skeletal deformities. No universal and effective medical therapy is available for this disorder. Many therapeutic agents have been tried without any convincing benefit. However, several recent clinical studies have reported beneficial effects of bisphosphonates in children with OI.1,2 These studies showed that intravenous pamidronate improves symptoms of chronic bone pain, recurrent fractures rate, motor function and bone mineral density (BMD). The objective of this study is to determine and describe the radiographic features of cyclic pamidronate administration on the growing skeleton in children with OI. We retrospectively reviewed the radiographs of 10 children (7 male, 3 female) treated with pamidronate. The age of these children ranged from 2-10 years. Pamidronate, which is an osteoclast inhibitor was administrated intravenously at 4 months intervals at the Pediatric Endocrinology Clinic, King Faisal Specialist Hospital and Research Centre, Riyadh, Kingdom of Saudi Arabia for 2 years. The annual total dose was 9mg/kg/year. Radiographic frontal views of the hands, wrists, and knees were obtained every 6 months. Other radiographs obtained for clinical indications during the treatment and follow-up periods were also reviewed as part of this study. Lumbar and whole body BMD were assessed biannually. Bone mineral density determinations were performed using a Hologic QDR4500 dual-energy x-ray absorptiometer with pediatric scan and analysis functions. Z scores, the number of standard deviations (SD) for BMD above or below the mean for age-matched controls, were derived on the basis of the manufacturer’s data. Prior to treatment, baseline radiographs showed generalized osteopenia, bone bowing and fractures with fracture deformities. Post treatment, there were multiple sclerotic metaphyseal bands seen in all children in the long bones paralleling to the growth Figure 1 Radiographs showing a) Multiple sclerotic metaphyseal bands are seen in the distal ends of the ulna and the radius, b) distal ends of the femur and proximal end of the tabia, which are parallel to the growth plates and correspond to the number of treatment cycle. a O
Abstract Background: Vitamin D regulates the concentrations of calcium and phosphate in blood and promotes the growth and remodeling of bones. The circulating active form of vitamin D, 1,25-dihydroxyvitamin D, binds to the vitamin D receptor (VDR), which heterodimerizes with the retinoid X receptor to regulate the expression of target genes. Inactivating mutations in the VDR gene cause hereditary vitamin D-resistant rickets (HVDRR), a rare disorder characterized by an early onset of rickets, growth retardation, skeletal deformities, hypocalcemia, hypophosphatemia and secondary hyperparathyroidism, and in some cases alopecia. Methods: We describe eight new HVDRR patients from four unrelated consanguineous families. The VDR gene was sequenced to identify mutations. The management of patients over a period of up to 11 years following the initial diagnosis is assessed. Results: Although all patients exhibit main features of HVDRR and carry the same c.885C>A (p.Y295*) loss of function mutation in the VDR gene, there was heterogeneity of the manifestations of HVDRR-associated phenotypes and developmental milestones. These eight patients were successfully treated over a period of 11 years. All clinical symptoms were improved except alopecia. Conclusions: The study concludes that VDR sequencing and laboratory tests are essential to confirm HVDRR and to assess the effectiveness of the treatment.
Persistent hyperinsulinemic hypoglycemia of infancy (PHHI) (Online Mendelian Inheritance in Man [OMIM] 256450), formerly known as nesidioblastosis, is a glucose metabolism disorder characterized by profound hypoglycemia and inappropriate secretion of insulin (1). Affected children run the risk of severe neurological damage unless immediate and adequate steps are taken (2). Treatment with diazoxide and/or somatostatin analogue is the first line of therapy. However, it not always effective, especially in familial cases, which may necessitate an alternative intervention such as pancreatectomy (3).
Several studies have suggested that partial pancreatectomy endangers future islet cell function (4,5). The incidence of diabetes increases with age and correlates with the extent of surgical resection (6,7). However, there was no report of occurrence of overt diabetes in medically treated patients (8). In this report, we described an adolescent female with neonatal nesidioblastosis who developed diabetes after medical treatment with diazoxide/octreotide. To our knowledge, this is the first nesidioblasosis case subject who developed diabetes following medical therapy.
A 14-year-old Saudi female presented with severe persistent hypoglycemia during the first few …
