Renjith Mani

Rigid Spine Syndrome among Children in Oman

OBJECTIVES 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. METHODS 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 patients 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. RESULTS 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. CONCLUSION 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.

Magnetic Resonance Imaging Abnormalities in a Child with Acute Cerebellitis.

A three-year-old girl was admitted to the Emergency Department of the Sultan Qaboos University Hospital, Muscat, Oman, in August 2014 with a three-day history of an acute unsteady gait. She had had an upper respiratory infection one week prior to admission. There was no history of headaches, vomiting or loss of consciousness, nor a history of similar illnesses in the past or within the patient’s family. On examination, the cranial nerves and optic fundi were normal with no pyramidal signs, nystagmus or opsoclonus. The patient had truncal ataxia, a severe unsteady gait and was not able to walk unsupported. An urgent non-contrast computed tomography scan of the brain revealed a hypoattenuating area involving both cerebellar hemispheres and the vermis, associated with effaced cerebellar and vermis folia. Magnetic resonance imaging (MRI) of the brain showed hyperintense changes in the cerebellar hemispheres and vermis [Figure 1]. The MRI showed evidence of mild diffusion restriction in the lesion. There was no significant enhancement of the lesion after the administration of contrast media and no perilesional oedema was noted. Figure 1A &B: Axial fluid-attenuated inversion recovery magnetic resonance images of the brain of a child with acute cerebellitis showing diffuse hyperintense changes in the cerebellar hemispheres and vermis. Baseline blood investigations, tandem mass spectrometry and lactate and ammonia tests were normal. A lumbar puncture revealed 25 lymphocytes/mm3 with normal glucose and protein levels. Polymerase chain reaction tests of the cerebrospinal fluid were negative for herpes simplex virus, enteroviruses, varicella zoster virus and mumps. The patient was prescribed 30 mg/kg of methylprednisolone once daily for three days followed by 1 mg/kg/day of oral prednisolone for one week which was subsequently tapered over the second week. After treatment, a 10-week follow-up T2-weighted fluid-attenuated inversion recovery MRI brain scan showed complete resolution of the cerebellar and vermis hyperintense lesions. The patient showed remarkable improvement with steroids and had totally recovered within a month.

Eating epilepsy or feeding epilepsy in an infant

A five month old infant is reported with Eating Epilepsy (feeding epilepsy/feeding related epilepsy). This is an uncommon type of reflex epilepsy in children, and should be considered if the history and investigations for gastro esophageal reflux and apparent life threatening event are negative. A clear stepwise history helps in diagnosis.

One in Three: Congenital Bent Bone Disease and Intermittent Hyperthermia in Three Siblings with Stuve-Wiedemann Syndrome

Stuve-Wiedemann syndrome (STWS) is a rare disorder characterised by congenital bowing of the long bones, contractures of the joints, neonatal onset of respiratory distress, sucking and swallowing difficulties, dysautonomia presenting as episodic hyperthermia, and usually an early death. Three siblings from a consanguineous marriage presented with similar clinical features over 16 years. STWS was established with their last child at the beginning of 2012. All the children exhibited the onset of STWS in the neonatal period with fever and generalised hypotonia. Examinations of all the infants revealed camptodactyly, micrognathia, bent long bones with wide metaphyses, and hypotonia. Only the second affected child had myotonia, demonstrated by electromyography. Unusual pyrexia as a presenting feature in this syndrome needs early recognition so that extensive and elaborate investigations can be avoided. The disorder is usually caused by a mutation in the leukaemia inhibitory factor receptor gene.

Rituximab Treatment in Myasthaenia Gravis: Report of two paediatric cases

Myasthaenia gravis (MG) is an auto-immune disease involving the postsynaptic receptors in the neuromuscular junction. The condition is characterised by fatigable weakness of the skeletal muscles and is uncommon in children. Acetylcholinesterase inhibitors and immune-modifying medications are usually considered the mainstay of treatment. However, these medications have to be given on a lifelong basis so that patients remain in remission; furthermore, drug-related side-effects can have a major impact on quality of life. We report two paediatric cases who were treated for MG at the Sultan Qaboos University Hospital, Muscat, Oman, in 2007 and 2008, respectively. Rituximab was eventually administered to each patient after their condition failed to improve despite several years of standard treatment with acetylcholinesterase inhibitors and immune-modifying medications. Overall, rituximab resulted in complete remission in one case and significant clinical improvement in the other case.

Blood Culture Contaminants in a Paediatric Population: Retrospective study from a tertiary hospital in Oman

OBJECTIVES Most children presenting with febrile illness require a blood culture to determine the causative organism as well as its sensitivity to antibiotics. However, false-positive results lead to unnecessary hospitalisations, prescriptions and tests. This study aimed to evaluate the impact of false-positive blood cultures among a paediatric population at a tertiary hospital in Oman. METHODS This retrospective study included all 225 children <13 years old with positive blood cultures who presented to the Sultan Qaboos University Hospital, Muscat, Oman, between July 2011 and December 2013. Blood cultures were reviewed to determine whether they were true-positive or contaminated. RESULTS A total of 344 positive blood cultures were recorded during the study period, of which 185 (53.8%) were true-positive and 159 (46.2%) were contaminated. Most true-positive isolates (26.5%) were coagulase-negative Staphylococcus spp. (CONS) followed by Escherichia coli (9.7%), while the majority of contaminated isolates were CONS (67.9%) followed by Streptococcus spp. (6.9%). Children with contaminated cultures were significantly younger (P <0.001) while those with true-positive cultures required significantly more frequent hospital admissions, longer hospital stays and more frequent antibiotic prescriptions (P <0.001 each). Chronic illness and mortality was significantly more frequent among those with true-positive cultures (P <0.001 and 0.04, respectively). While white blood cell and absolute neutrophil counts were significantly higher in true-positive cultures (P <0.001 each), there was no significant difference in C-reactive protein (CRP) level (P = 0.791). CONCLUSION In this population, CRP level was not an adequate marker to differentiate between true- and false-positive cultures. A dedicated well-trained phlebotomy team for paediatric patients is essential.

Longitudinal extensive transverse myelitis (LETM) in children: A twenty-year study from Oman

Objective: The data on children with diagnosis of idiopathic transverse myelitis (ITM) was searched to find the pattern of myelitis in Oman. Method: A retrospective study was carried out from January1995 to December 2014. Electronic medical records and patient medical files were seen to get the complete data of the children with ITM. This work was carried out at Sultan Qaboos University hospital, Muscat, Oman. The ethical committee of the hospital had approved the study. The diagnosis was based on the established criteria. Other causes of myelopathy were excluded. Results: 19 children with idiopathic transverse myelitis were found. There were 18 out of 19 (94.6%) children with longitudinal extensive transverse myelitis (LETM). Conclusion: Longitudinal transverse extensive myelitis is the most common form of ITM in Oman.