Faisal Al-Azri

A mutation of EPT1 (SELENOI) underlies a new disorder of Kennedy pathway phospholipid biosynthesis.

EPT1 encodes an enzyme involved in the Kennedy pathway of phospholipid biosynthesis, important for cell membrane integrity. Ahmed et al. identify an EPT1 mutation that impairs enzyme activity and causes complex motor neuron degenerative disease. This is the first human disorder shown to arise through Kennedy pathway dysfunction.

Septo-optic dysplasia complex: Clinical and radiological manifestations in Omani children

Background: Septo-optic dysplasia (SOD), also known as de-Morsiers syndrome, is a rare disorder characterized by any combination of optic nerve hypoplasia (ONH), pituitary gland hypoplasia, and midline abnormalities of the brain including absence of septum pellucidum and corpus callosum dysgenesis. It is typically diagnosed in infancy and has a variable presentation that includes visual, neurologic, and/or hypothalamic-pituitary endocrine deficits. Purpose: To demonstrate the ophthalmic, endocrine, and neurologic spectrum of SOD in five Omani children and address the crucial role of high-resolution neuroimaging for its early and accurate diagnosis. Materials and Methods: A retrospective chart review was performed in 2010 of all children in the pediatric ophthalmology database of Sultan Qaboos University Hospital (SQUH) who were diagnosed to have ONH. All relevantdemographic, ophthalmic, neurologic, endocrine, and neuro-radiological manifestations were recorded in a data collection form. All previous neuroimaging results were reviewed by a neuro-radiologist. Results: Five patients (four males, one female) with the diagnosis of ONH were included in the study. They presented during the period 1998-2008. All patients were born at term, with normal birth weights to healthy mothers with insignificant antenatal history. Age at presentation ranged from three months to one year. Manifestations at presentation included severe visual impairment (5/5), neonatal hypoglycemia (3/5), seizure disorder (2/5), and failure to thrive (4/5). ONH was bilateral in 3/5 patients and unilateral in (2/5). Brain and orbit imaging revealed varying anomalies in all patients. These included absent septum pellucidum (3/5), severe corpus callosum agenesis (1/5), ectopic pituitary (5/5), falx cerebri deficiency (1/5), optic nerve hypoplasia (5/5), optic chiasmal hypoplasia (5/5), and olfactory tract hypoplasia (1/5). Endocrine deficits were detected in 4/5 patients (3 with panhypopituitarism, and 1 with growth hormone deficiency) and necessitated replacement therapy. Conclusion: SOD is a clinically heterogeneous disorder with a wide spectrum of ophthalmic, endocrine, and neurologic manifestations. All features might not be present in a single patient. A high consanguinity rate and lack of history of alcohol and drug use were observed in our cohort. Most affected children present first to the pediatrician with failure to thrive. Radiological confirmation of ONH necessitates high-resolution imaging and interpretation by an experienced neuro-radiologist. In our cohort, all patients with ONH had associated optic chiasmal hypoplasia. Early detection and treatment reduces disease-related morbidity, and can be life saving.

Oral Propranolol for the Treatment of Periorbital Infantile Hemangioma: A Preliminary Report from Oman

Purpose: To investigate the efficacy and safety of oral propranolol in the management of periorbital infantile hemangioma in four subjects. Materials and Methods: Consecutive patients who presented with periorbital capillary hemangioma with vision-threatening lesions were prospectively enrolled in this study between January 2009 and October 2010. All subjects underwent treatment with 2 mg/kg/day oral propranolol. All subjects underwent ocular, systemic, and radiologic evaluations before treatment and at periodic intervals after starting therapy. Side effects from therapy were also evaluated. Results: Four subjects, between 3 months and 19 months of age, with periorbital hemangioma were enrolled in this study. Two subjects had been previously treated with oral corticosteroids with unsatisfactory response. All subjects had severe ptosis, with the potential for deprivation amblyopia. Three subjects had orbital involvement. After hospital admission, oral propranolol was initiated in all subjects under monitoring by a pediatric cardiologist. Subsequent therapy was performed with periodic out-patient monitoring. All subjects had excellent response to treatment, with regression of periorbital and orbital hemangioma. There were no side effects from therapy. Conclusions: Oral propranolol for periorbital hemangioma was effective in all the four subjects. Oral propranolol may be appropriate for patients who are nonresponsive to intralesional or systemic steroids. In patients with significant orbital involvement and lesions causing vision-threatening complications, oral propranolol can be the primary therapy.

Megalencephalic Leukoencephalopathy with Subcortical Cysts

Megalencephalic leucoencephalopathy with subcortical cysts (MLC) is a genetic degenerative disease of the white matter of the brain. The white matter degenerates and swells, resulting in patients with large head sizes. Cysts are also seen in white matter.1 Children with MLC usually present in the first year of life, though some discrepancy has been reported in their clinical course.1 MLC is a rare neurodegenerative disorder and is reported here for the first time in two siblings in Oman. Two children of consanguineous parents presented in 2004, a girl (A), currently 19 years of age, and a boy (T), currently 11 years. Their main complaint was mild developmental delay and the large head size, the latter noted by the parents during the first year of life, compared to their siblings. The patients gained initial milestones normally but after the first year had difficulty walking. Over time there was an increase in spasticity and weakness of the limbs. At the time of writing, neither child could walk or sit unsupported. The elder sibling (A) had eating difficulties and was fed through a nasogastric tube. She could understand simple commands but had difficulty in speaking. The younger sibling (T) was still able to eat with assistance and had preserved speech. However, he had recently developed gastrooesophageal reflux. Neither sibling had a history of seizures. The other 6 children in the family (3 sons and 3 daughters) were normal; there was no family history of similar or other neurologic conditions in the past two to three generations. In 2004, upon examination at presentation, there was macrocephaly in both patients. The head circumference of patient T was 58 cm at 4 years of age and 59 cm in patient A at 11 years; both measurements are well above the 97th percentile for their ages. The cranial nerves and language were normal. Bipyramdial signs were noted in the upper and lower limbs. There was spasticity in lower limbs with upgoing plantar responses. Although the upper limb muscles were wasted, the power was normal (Medical Research Council grade 5), with brisk deep tendon reflexes. Routine blood and metabolic investigations were normal. Electroencephalography and visual evoked potentials were not performed, as there were no seizures or visual abnormalities. A magnetic resonance imaging (MRI) brain scan revealed bilateral white matter diffuse changes with subcortical cysts [Figure 1]. A diagnosis of MLC was made after consultation with an expert.1,2 Although the diagnosis was clinically certain, there was no genetic confirmation. Recently, MLC1 gene sequencing revealed a homozygous c.432+1G>A mutation. The mutation is predicted to cause aberrant splicing, and it was not found in more than 400 control chromosomes; features which suggest the likely pathogenicity of this mutation.1 Both patients were severely handicapped and on symptomatic treatment only, not yet having developed seizures. Patient A was bedridden and on nasogastric feeding. Figure 1. A to C. A: Axial magnetic resonance images (T2-weighted) of patient T, showing diffuse white matter swelling and hyperintensity (arrows). B: Axial fluid liquid attenuation inversion recovery (FLAIR) image showing subcortical cysts in the frontal region (arrows). ...

Investigation of the cerebral blood flow of an Omani man with supposed ‘spirit possession’ associated with an altered mental state : a case report

IntroductionThe view that spirits may possess humans is found in 90% of the world population, including Arab/Islamic societies. Despite the association between possessive states and various neurological and psychiatric disorders, the available literature has yet to correlate possessive states with functional brain imaging modalities such as single-photon-emission computed tomography.Case presentationThis paper describes the clinical case of a 22-year-old male Omani patient who presented to us with an altered state of consciousness that his caregiver attributed to possession. We examined whether the patients mental state correlated with neuro-imaging data. The patients distress was invariably associated with specific perfusion in the left temporal lobe and structural abnormality in the left basal ganglia.ConclusionWe discuss the case in the context of possession as a culturally sanctioned idiom of distress, and highlight the importance of studying cross-cultural presentations of altered states of consciousness within biomedical models.

Cognitive Profiles in Patients with Multi-Infarct Dementia: An Omani Study

Background: Studies on neurocognitive impairment among patients presenting with multi-infarct dementia (MID) have received little attention from non-Western societies, and the Arab world is no exception. To our knowledge, this is the first study to characterize neurocognitive, affective and vegetative functioning in patients with MID in Oman. Methods: In this study, we recruited 20 Omani patients presenting with MID and age- and gender-matched controls at the outpatient clinic of the Department of Behavioral Medicine, Sultan Qaboos University Hospital, Sultan Qaboos University, Muscat, Oman. In addition to the collection of clinical and demographic information, various cognitive batteries were administered to the consenting participants, including those indexing nonverbal reasoning abilities, working memory (attention, concentration and recall) and executive functioning. Questionnaires that elicit the affective range and the quality of sleep were also administered. Results: Compared with the matched healthy subjects, the patients diagnosed with MID significantly differed in the presently operationalized indices of visuospatial function, semantic memory and affective and vegetative functioning. In contrast, episodic memory and some attentional capacities were not significantly different compared with the control subjects. Conclusions: The present study was explorative and clinically designed to describe neurocognitive functioning in patients with MID seeking consultation at a tertiary care center in Oman. Our data are necessary for planning and setting up community services and health care programs for demented patients in a society where dementia is a growing silent epidemic.

Clinical Spectrum of Hereditary Spastic Paraplegia in Children: A study of 74 cases

OBJECTIVES The aim of the study was to explore the spectrum of hereditary spastic paraplegia (HSP) in children in Oman. METHODS This retrospective study was carried out between January 1994 and August 2011 on children with delayed development, gait disorders and motor handicaps, with signs of symmetrical pyramidal tract involvement. A detailed perinatal and family history, including the age of onset of symptoms, was recorded. The children were labelled as having either the pure or complicated form of HSP based on the established diagnostic criteria. In families with more than one affected child, parents and all other siblings were also examined. RESULTS Within the study, 74 children from 31 families were diagnosed with HSP. Parental consanguinity was seen in 91% of cases, with 44 children (59.4%) experiencing onset of the disease under one year of age. Complicated HSP was the most common type, seen in 81.1%. Speech involvement, mental retardation, and epilepsy were the most common associated abnormalities. Nonspecific white matter changes and corpus callosum abnormalities were noted in 24.3% of cases on magnetic resonance imaging. CONCLUSION The study described clinical features of 74 children with HSP. Autosomal recessive complicated HSP was seen in 81.1% of cases.

Relapse of Multiple Myeloma Presenting as Lower Lip Numbness

Multiple myeloma (MM) is an uncommon malignancy characterised by the proliferation of clonal plasma cells. There are few published reports describing the extramedullary presentation of MM manifesting primarily in the head and neck region. In addition, the occurrence of an isolated relapse of MM in these sites is exceedingly rare. We report a 56-year-old female who presented to the Sultan Qaboos University Hospital, Muscat, Oman, in 2010 with sudden-onset numbness of the lower lip. She had a history of MM in remission following chemotherapy and a bone marrow transplant. Clinical and radiographic examinations were indicative of a possible relapse of MM, which was subsequently confirmed by bone marrow aspiration and histopathological evaluation. This unique case highlights the unusual site of relapse of a haematolymphoid malignancy.

‘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.

Bilateral Ocular Ischaemic Syndrome-Rare Complication of Rhinocerebral Mucormycosis in an Omani Patient: Case report and literature review.

Ocular ischaemic syndrome (OIS) is a relatively uncommon condition. Simultaneous bilateral involvement is even less common and has been reported in only 22% of all cases of OIS. It has variable clinical presentations, of which visual loss and ocular pain are the most common. It is believed to occur when there is a 90% or greater carotid artery obstruction. This syndrome is often associated with a number of systemic diseases including diabetes mellitus, hypertension, coronary artery disease, and cerebrovascular disease. Only occasionally has it been described as a complication of rhinocerebral mucormycosis. We report an unusual case of bilateral OIS secondary to bilateral internal carotid artery thrombosis as a complication of invasive rhinocerebral mucormycosis. In addition, a review of clinical presentation, diagnostic work-up and treatment options for OIS is provided.