Dilip Sankhla

External Hydrocephalus: A Report of 16 Cases from Oman

Sixteen cases of external hydrocephalus (EH) were seen from January 1993 to June 1995. There were 13 (81.3 per cent) male and three female children. Fourteen (87.5 per cent) were under 12 months of age. Three siblings with EH were seen in one family. All but three of the 16 recovered over time without medical or surgical intervention. These three needed cerebral decongestants in the acute phase.

Aicardi-Goutieres syndrome in siblings.

Two siblings with familial encephalopathy, calcification of the basal ganglia, and cerebrospinal fluid lymphocytosis, constituting the triad of Aicardi-Goutieres syndrome, are reported. This syndrome resembles congenital intrauterine infections, which must be meticulously excluded. Aicardi-Goutieres syndrome is extremely rare and is being reported from the Arab world for the first time to our knowledge. (J Child Neurol 2001;16:759-761).

Noncommunicating multiple intra-abdominal enteric duplication cysts

A very rare case of noncommunicating multiple intra and retroperitoneal enteric duplication cysts (EDCs) is reported and discussed. Two large noncommunicating EDCs, one within the mesentery of proximal jejunum causing complete luminal obstruction and other isolated cyst in retroperitoneal area displacing duodenum and extrahepatic biliary system, were resected successfully in a 2-day-old neonate along with correction of malrotation.

Rigid Spinal Muscular Dystrophy and Rigid Spine Syndrome Report of 7 Children

Seven children (5 male, 2 female) were seen over the last 16 years with rigid spine syndrome. Six children had rigid spinal muscular dystrophy (selenoprotein N1–related myopathy [SEPN1RM]) and 1 had myopathy associated with rigid spine. The main presenting complaint in all was difficulty in bending the spine. The diagnosis was made on clinical features and imaging of the paraspinal muscles. Muscle histopathology revealed minimal myopathic changes to severe muscle degeneration. Genetic testing, which was only available for the last case, for selenoprotein was negative.

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.

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.

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.

‘Papaya Seed’ Appearance of Subependymal Nodules on Magnetic Resonance Imaging in a Patient with Tuberous Sclerosis

A 14-month-old male was referred to the Department of Child Health at the Sultan Qaboos University Hospital (SQUH), Muscat, Oman, in 2014 with a two-week history of frequent abnormal movements of the body. A video, recorded by the patient’s father, revealed that the patient suffered from typical flexor body spasms and left side partial motor seizures. On physical examination, the patient had several cutaneous features of tuberous sclerosis, including depigmented skin lesions and Shagreen patches. A neurological examination was unremarkable. Sleep electroencephalography displayed interictal generalised and focal discharges from the left frontocentral region. There was no evidence of hypsarrhythmia. Magnetic resonance imaging (MRI) of the brain revealed multifocal cortical and subcortical tubers with subependymal nodules (SEN) which had a ‘papaya seed’ appearance [Figure 1A]. Four to five rhabdomyomas in both ventricles were visible on echocardiography. Ophthalmological examination revealed an astrocytoma along the inferior vascular arcade close to the optic nerve of the left eye. The patient’s father had a possible skin lesion on his back, while the rest of the family had normal examinations. The child was diagnosed with tuberous sclerosis and epilepsy. He was initially prescribed the antiepileptic medication vigabatrin; due to a lack of response, this was changed to topiramate and levetiracetam after two weeks.

Anterior Inferior Cerebellar Artery Loop-Induced Paroxysmal Otalgia in a Child

A seven-year-old girl was referred to the child neurology outpatient clinic of Sultan Qaboos University Hospital in Muscat, Oman, in June 2014 by an ear, nose and throat (ENT) specialist from another hospital for an evaluation of pain in her left ear. The pain had started about two and half years previously and was paroxysmal and associated with decreased hearing and tinnitus. The pain typically lasted two to three hours at a time. Initially, the child was only in pain once per month; however, more recently, the frequency had increased to two to three times a day. During episodes of otalgia, the pain was so severe that the girl could do nothing but cry out for help to relieve it. In between these episodes, there were no signs of tinnitus or hearing loss. There were no apparent triggers for the pain, such as swallowing or being touched on the face.