Rigid spine syndrome among children in Oman

Rigidity of the spine is common in adults but is rarely observed in children. The aim of this study was to report on rigid spine syndrome [RSS] among children in Oman. Data on children diagnosed with RSS were collected consecutively at presentation between 1996 and 2014 at the Sultan Qaboos University Hospital [SQUH] in Muscat, Oman. A diagnosis of RSS was based on the patient's history, clinical examination, biochemical investigations, electrophysiological findings, neuro-imaging and muscle biopsy. Atrophy of the paraspinal muscles, particularly the erector spinae, was the diagnostic feature; this was noted using magnetic resonance imaging of the spine. Children with disease onset in the paraspinal muscles were labelled as having primary RSS or rigid spinal muscular dystrophy. Secondary RSS was classified as RSS due to the late involvement of other muscle diseases. Over the 18-year period, 12 children were included in the study, with a male-to-female ratio of 9:3. A total of 10 children were found to have primary RSS or rigid spinal muscular dystrophy syndrome while two had secondary RSS. Onset of the disease ranged from birth to 18 months of age. A family history was noted, with two siblings from one family and three siblings from another [n = 5]. On examination, children with primary RSS had typical features of severe spine rigidity at onset, with the rest of the neurological examination being normal. RSS is a rare disease with only 12 reported cases found at SQUH during the study period. Cases of primary RSS should be differentiated from the secondary type

Switching to multiple daily insulin injections in children and adolescents with type 1 diabetes: revisiting benefits from Oman

Optimal glycemic control is an important goal in the management of type 1 diabetes mellitus [T1DM]. Although the use of multiple daily injections [MDI] is a common regimen worldwide, its use is not yet universal in many countries. Our aim was to evaluate the effects of switching from a twice daily [BID] to a MDI insulin regimen in children and adolescents with T1DM in order to revisit its benefits in the Omani population. We conducted a retrospective cohort study of children and adolescents with T1DM at Sultan Qaboos University Hospital, Muscat, Oman, between January 2007 and June 2013. Patients using the BID regimen for more than six months who were then switched to MDI were included in the analysis. We compared glycated hemoglobin levels [HbA[1C]] before and after the regimen change. Fifty-three children were eligible for the study. Ten patients were excluded for various reasons. The remaining 43 patients were 58% male and 42% female, with a mean age of 9.4 +/- 3.7 years. There was significant decrease in the overall mean HbA[1C] level from baseline [10.0] compared to three months after switching to MDI [9.5]; p=0.023. Nevertheless, the improvement was not significant in the subsequent follow-up visits at six and nine months. The reduction in HbA1c values was observed mainly in children five to 11 years. Switching from a BID to MDI insulin regimen has favorable effects on the overall control of T1DM in children and adolescents, as assessed by HbA1c levels. In addition, this regimen has been proved to be safe and well tolerated by patients

Novel mutation in Wolcott–Rallison syndrome with variable expression in two Omani siblings

Wolcott-Rallison syndrome [WRS] is an autosomal recessive disease, characterized by neonatal or early-onset non-autoimmune insulin-dependent diabetes. WRS, although rare, is recognized to be the most frequent cause of neonatal-onset diabetes. The majority of reported patients are from consanguineous families. Several mutations with variable expression of the syndrome are reported. Here we describe a six-year-old boy with WRS who was evaluated at Sultan Qaboos University Hospital and was found to have a novel homozygous nonsense mutation in the EIF2AK3 gene. His younger sister also had WRS but with milder expression. The mutation exhibited different clinical characteristics in the siblings proving that WRS patients phenotypic variability correlates poorly to genotype. This is the first case report of two Omani children with WRS and a report of a novel mutation

Demographic and clinical characteristics of type 1 diabetes mellitus in Omani children - single center experience

To describe the demographic characteristics and clinical presentation of Omani children with type 1 diabetes mellitus at Sultan Qaboos University Hospital, Muscat, Oman. A retrospective analysis of all children with type 1 diabetes mellitus attending the Pediatric Endocrine Unit at Sultan Qaboos University Hospital, Oman from June 2006 to May 2013. One hundred and forty-four patients were included in the study. The mean +/- SD of age at diagnosis was 6.7 +/- 3.7 years. The median duration of symptoms was 10 days [IQR; 5-14]. The most commonly reported presenting symptoms were polyuria [94%], polydipsia [82%], and weight loss [59%]. Diabetic ketoacidosis at initial presentation was diagnosed in 31% of the patients. Different insulin regimens were prescribed: multiple daily injections in 109 [76%] patients, twice daily insulin regimen in 23 [16%] patients, and insulin pump therapy in 12 [8%] patients. Family history of type 1 diabetes mellitus was present in 31 [22%] patients. There were no significant differences in presenting complaints [polyuria, p=0.182; polydipsia, p=0.848], duration of symptoms [p=0.331], reported weight loss [p=0.753], or diabetic ketoacidosis at presentation [p=0.608] between patients with and without family history of type 1 diabetes mellitus. Polyuria, polydipsia and weight loss are the most common presenting symptoms. Family history of type 1 diabetes mellitus is highly prevalent among the studied patients. Diabetic ketoacidosis was found to be less common in Oman compared to other diabetes centers in the Middle East.

Prevalence of celiac disease in Omani children with type 1 diabetes mellitus: a cross sectional study

Published studies on the prevalence of celiac disease in type 1 diabetes mellitus from the Arab World are scant. We aim to report the prevalence of celiac disease in Omani children with type 1 diabetes mellitus. Children with type 1 diabetes mellitus were prospectively screened for celiac disease, at Sultan Qaboos University Hospital, Muscat, Oman over a period of one year [June 2011 - May 2012]. Serum anti tissue transglutaminase IgA, endomysial IgA antibodies and total IgA were measured for screening of celiac disease. Children with positive anti-tissue transglutaminase and/or endomysial IgA antibodies underwent endoscopy. A total of 103 children with type 1 diabetes mellitus were initially included. Ten patients were lost to follow up. Ninety-three patients aged 2-17 years underwent screening for celiac disease. Sixteen patients had positive anti-tissue transglutaminase [17%]. Fourteen patients underwent endoscopy with duodenal biopsies, while two were lost to follow-up. Five patients with positive anti-tissue transglutaminase had intestinal biopsy proven celiac disease. The prevalence of celiac disease is 5.5% in our cohort of children and adolescents with type 1 diabetes mellitus. The prevalence of celiac disease in Omani children and adolescents with type 1 diabetes mellitus is similar to the World's reported prevalence, but is less than that reported for Middle Eastern Arab children. To our knowledge, this is the first reported study on the prevalence of celiac disease in Omani children with type 1 diabetes mellitus

Sanjad-sakati syndrome in Omani children

Sanjad Sakati Syndrome is an Autosomal Recessive disorder found exclusively in people of Arabian origin. It was first reported from the Kingdom of Saudi Arabia in 1988. This is a report of a family with this rare disease in Oman. The syndrome comprises of congenital hypoparathyroidism, severe growth retardation, low IQ and typical facial features. Supportive treatment in the form of vitamin D and growth hormone is often offered to these children