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

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

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Radioactive Iodine-131 Therapy in the Management of Ectopic Thyroid Tissue

The occurrence of ectopic lingual thyroid tissue was first reported over 100 years ago. We report an unusual presentation of ectopic thyroid tissue occurring in the submental area. A 27-year-old female presented to the Sultan Qaboos University Hospital in Muscat, Oman, in October 2011 with an 8 x 6 cm mass which caused difficulty in talking and a feeling of heaviness in the jaw. She was clinically and biochemically euthyroid upon presentation. The clinical diagnosis was confirmed by a technetium-99m thyroid scan, magnetic resonance imaging and fine needle aspiration. A single dose of 976 megabecquerels of radioactive iodine-131 resulted in hypothyroidism after three months and the complete disappearance of the swelling and associated symptoms. At a two-year follow-up, the patient was healthy and continuing lifelong replacement therapy with thyroxine

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

Magnetic Resonance Imaging Abnormalities in a Child with Acute Cerebellitis

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Semilobar Holoprosencephaly with Neurogenic Hypernatraemia : Two new cases

Holoprosencephaly (HPE) is a developmental defect of the embryonic forebrain and midface. It is due to the non-cleavage of the embryonic forebrain into two cerebral hemispheres and the incomplete development of the paramedian structures. The overall prevalence is 1.31 per 10,000 births. The aetiology could be genetic,environmental, or both. HPE is classified into alobar, semilobar, and lobar subtypes based on the degree of separation of the cerebral hemispheres. We report two new cases of semilobar HPE with neurogenic hypernatraemia. Lack of thirst and hypodypsia associated with chronic hypernatraemia in patients with HPE is highly suggestive of neurogenic hypernatraemia. Early identification of neurogenic hypernatraemia is important as it improves with forced fluid therapy and does not require any medication

Vascular Anomalies in Children Misdiagnosed with Asthma : Case series

In most asthmatic children, inhaled steroids can relieve and control the symptoms of asthma. Persistent wheezing and respiratory symptoms in young children despite appropriate treatment may indicate other diagnostic considerations. Delays in this diagnosis can result in unnecessary investigations, inappropriate treatment and further complications. We report three patients who presented to Sultan Qaboos University Hospital, Muscat, Oman, in the period between September 2010 and May 2012 with persistent wheezing due to compression of the trachea caused by vascular anomalies. All patients had double aortic arches putting pressure on the trachea, leading to respiratory manifestations and feeding problems. Following surgery, all cases showed improvement and no longer required medication. Without clinical suspicion and appropriate imaging, congenital vascular anomalies may remain undetected for years. Infants and children with chronic wheezing should be evaluated for vascular anomalies as soon as possible. General practitioners should refer all such patients to a tertiary-level hospital for further investigations and management

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 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. 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

Unmasking Immune Reconstitution Inflammatory Syndrome (IRIS): A report of five cases and review of the literature

Immune reconstitution inflammatory syndromes (IRIS) in patients with acquired immune deficiency syndrome (AIDS) are characterised by atypical manifestations of opportunistic pathogens. These occur in patients experiencing improvement in CD4 cell counts following receipt of highly active anti-retroviral therapy (HAART). Although well established as a syndrome, IRIS still presents challenges in diagnosis and management. We report five cases of IRIS with diverse clinical presentations and due to different infectious aetiologies. A review of the published literature on this syndrome is also included

Leucoencephalopathy with Bitemporal Lobe Cysts in a Child with Developmental Delay

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