Spectrum of paediatric lysosomal storage disorders in Oman

The aim of this study was to look at the spectrum of paediatric lysosomal disorders in Oman. Lysosomal storage disorders [LSDs] are a heterogeneous group of inherited metabolic diseases. Few studies on the birth prevalence and prevalence of LSDs have been reported from the Arabian Peninsula. We studied 86 children with LSDs diagnosed over a period of nine years, from June 1998 to May 2007. Detailed clinical data, including age of onset, sex, age and mode of first presentation, and presence of consanguinity were collected. Our data showed the combined birth prevalence for all LSDs in Oman to be around 1 in 4,700 live births. Sphingolipidoses was the most common group of disorder encountered [47.7%], followed by neuronal ceroid lipofuscinoses [NCL] [23.2%] and mucopolysaccharidoses [MPS] [23.2%]. The proportion of consanguineous marriages in our series was found to be 87.5%. Conclusion: Our data represent the birth prevalence and clinicalspectrum of such disorders in Oman, one of the highly consanguineous societies in the Middle East

Pattern of childhood neuronal migrational disorders in Oman

To record the pattern of different neuronal migrational disorders [NMD] and their associated neurological conditions. The data were collected at the Child Neurology Services of Sultan Qaboos University Hospital, Oman, from January 1993 to September 2006 from all children with psychomotor delay and epilepsy, who underwent brain imaging [mostly MRI]. The MR imaging was used for the diagnosis of a neuronal migration anomaly. There were 86 cases of NMD. Corpus callosum agenesis and lissencephaly/pachygyria formed the major group. There were 48 cases of corpus callosum agenesis, and 16 cases of lissencephaly/pachygyria. Other disorders were 10 cases of heterotopias, 5 schizencephaly, 3 holoprosencephaly, 2 polymicrogyria, and one each of hemimegalencephaly, and hydranencephaly. Developmental delay was the most common associated finding noted in 80 [93%] cases. Sixty-seven [77.9%] cases had motor deficit. Forty out of 86 [46.5%] cases had epilepsy. Partial/partial complex seizures were the most common at 13 out of 40 [32.5%]. Syndromic seizures were seen in 11 out of 40 [27.5%] cases. The seizures were controlled in only 3/40 [7.5%] cases. The NMD constitute a significant number of child neurology patients with psychomotor delay and intractable epilepsy. Exogenic and genetic factors affecting the early embryonic and fetal development from sixth to twenty-sixth weeks of gestation result in NMD. Recent genetic studies are defining the underlying mechanism and these studies will help in early diagnosis and possible prevention of NMD

Clinical profile of myasthenia gravis in the sultanate of Oman

Clinical study and follow up of myasthenia gravis patients in Oman. Follow up of 50 consecutive myasthenia gravis patients referred to the Sultan Qaboos University Hospital, Oman for a median period of 3 years from 1997 to 2000. We based the diagnosis on the clinical picture, repetitive nerve stimulation tests and edrophonium test. We performed a computerized tomography scan of the chest and anti-acetylcholine receptor antibodies. We reviewed the results of immuno modulatory treatment including thymectomy and compared these with other studies. Of 50 patients, 6 had purely ocular myasthenia. Of the 44 with generalized myasthenia, 28 had bulbar involvement and 12 required ventilatory support. Eight out of 29 thymectomized patients had drug free remission after 2 years. There was worsening of myasthenic symptoms in only one out of 8 pregnancies and deliveries. Bulbar and ventilatory involvement are more common in our series as compared with western data. Pregnancy and delivery were well tolerated

Munchausen syndrome by proxy

Five children [3F:2M], in the age group 1 years to 11 years, with Munchausen syndrome by proxy are reported from the Sultanate of Oman. They were seen over a four years period from 1996-1999. In all these children, the mother came up with history of uncontrolled epilepsy. Carbamazepine was the most common antiepileptic drug used. One of these children remained hospitalized elsewhere for nearly 9 months, as a case of uncontrolled status epilepticus. It took 18 months to 6 years [mean 2.8 years] to establish the diagnosis and the mother was the offender in all. The main lead to diagnosis, was the disparity between history and clinical presentation to hospital. The carbamazepine levels were several times above the upper limit of therapeutic range. Munchausen syndrome by proxy very much exists here, but is possibly less recognized and needs immediate attention to formulate policies to identify and manage these children. It is necessary to create awareness even in the medical community, to recognise this problem. There is an urgent need to develop a child protection council at the national or regional level

Management of lower limb spasticity in childhood with botulinum toxin A

To assess the safety and efficacy of Botulinum Toxin A in the treatment of lower limb spasticity in childhood. Prospective open study of treatment with Botulinum Toxin A of 28 consecutive children with spasticity and dynamic contractures of the lower limes. The muscles injected were hip adductors, hamstring and gastrocenmius-soleus. The causes of spasticity were cerebral palsy in 16, hereditary spastic paraplegia in 9, transverse myelopathy in 2 and head injury in 1. A better response was seen in those with mild to moderate spasticity, shorter duration of illness [< 3 years] and those with HSP. There was gradual improvement of the lower limbs with reduction in contractures. Botulinum Toxin A is safe and effective the treatment of lower limp spasticity in children

Dense thalami - an important diagnostic feature of tay sack disease

Two cases of Tay Sachs disease which were diagnosed on clinico-radiological basis in Oman are presented