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

Successful management of a neglected case of nephropathic cystinosis

Cystinosis is a rare metabolic disorder characterised by lysosomal cystine accumulation leading to multi-organ damage; clinically, the kidneys are the first organ affected. Respiratory insufficiency caused by overall respiratory muscle myopathy is a life-threatening complication. Treatment with cysteamine should be initiated rapidly and continued lifelong to prolong renal function and protect the extra-renal organs. We report the case of a four-year-old Omani girl, diagnosed with infantile nephropathic cystinosis at 21 months. Cysteamine was prescribed but with no compliance to medications. She presented to the Child Health Department of Sultan Qaboos University Hospital, Oman, two years later with severe failure to thrive, electrolyte disturbance and respiratory failure. The hypoventilation and early respiratory dysfunction, due to intercostal and diaphragm myopathy, was treated by non-invasive positive-pressure ventilation. The patient was discharged after four months of intensive rehabilitation with no ventilator support. No standard treatment options have yet been established for respiratory dysfunction in cystinosis

Regional variation in the prevalence of asthma symptoms among Omani school children: Comparisons from two nationwide cross-sectional surveys six years apart

The International Study of Asthma and Allergies in Children [ISAAC] highlighted the presence of wide variations in asthma prevalence between and within countries. The aim of this study was to determine the changes in the prevalence of asthma and its symptoms across the different regions of Oman. Two cross-sectional surveys were conducted as part of ISAAC phases I [1995] and III [2001] in two age groups [6-7 and 13-14 years] from nation-wide samples of Omani school children, with 7,067 participants in 1995 [3,893 young and 3,174 older group] and 7,879 participants in 2001 [4,126 young and 3,753 older group]. Over the period of six years, the Sharqiya [Eastern] region continued to have the highest prevalence of self-reported asthma diagnosis and all asthma symptoms in both age groups, with a significant increase in the prevalence of wheeze in the past 12 months [from 8.7% to 13.8%; p=0.002] and asthma diagnosis [from 13.8% to 17.8%; p=0.046] in the young group, and a significant increase in night cough [from 21.6% to 27.8%; p=0.039] in the older group. All other regions had lower prevalence rates in 1995 in both age groups, and showed either no significant change or a decline in one or two of the self-reported asthma symptoms. The prevalence of asthma diagnosis among wheezy children remained unchanged across all regions. In addition, asthma under-diagnosis remains a problem with only 60% of children with severe wheeze reporting asthma diagnosis in both surveys. The geographic variation in the prevalence of self-reported of asthma symptoms among Omani school children persists with further increase in the Sharqiya region. The findings also suggest under-diagnosis and/or poor recognition of asthma which had not improved over time