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

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. 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. 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. 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

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

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

Absence of left pulmonary artery: case report

Agenesis and hypoplasia of left-sided pulmonary artery anomalies have been infrequently reported. The majority of cases are diagnosed in childhood, but occasionally some asymptomatic cases are first recognised in adulthood when detected by an abnormal chest radiograph. We report a twenty-one year old female patient with left pulmonary artery agenesis who was asymptomatic till adulthood, but presented with mild respiratory symptoms and an abnormal chest X-ray. A contrast enhanced computerised tomography [CECT] scan helped to establish the diagnosis. Early diagnosis of this condition is essential to avert potentially lethal complications

Insulinoma: a rare cause of a common metabolic disorder - hypoglycaemia

We describe the first patient diagnosed with an insulinoma in Oman and successfully managed with a distal laparoscopic pancreatectomy. The importance of obtaining a good history from the patient and/or his family is stressed. All patients with loss of consciousness must have a Reflow check carried out and, if hypoglycaemic, this should be documented in the laboratory and a simultaneous serum sample stored for measurement of insulin, C-peptide proinsulin and sulphonylurea levels, if subsequently indicated. If magnetic resonance imaging fails to locate the tumour, endoscopic ultrasound of the pancreas, or indium 111 labelled octreotide scanning is indicated if the patient's hypoglycaemia has previously responded to treatment with octreotide

Cushing's disease: Pituitary surgery versus adrenalectomy

We describe two patients of the Department of Medicine at Sultan Qaboos University Hospital, Muscat, Oman, with Cushing's disease. Their magnetic resonance imaging scans of the pituitary were negative. One patient was treated by transsphenoidal surgery and the other by bilateral endoscopic adrenalectomy. Both procedures were successful and the patients cured. The advantages and disadvantages of these two approaches are discussed

Traumatic rupture of the right hemidiaphragm:diagnosis aided by computerized tomography and image reformation: a case report

Traumatic rupture of the diaphragm [TRD] poses a challenge to both radiologists and surgeons. They are uncommon and occur following blunt abdominal or lower thoracic trauma. The right side involvement is less common than the left side and is easily missed. Spiral computed tomography [Spiral CT] with image reformation is very useful in the diagnosis of TRD and in identifying associated injuries. Early diagnosis and repair reduces mortality and morbidity. We present the case of a 16 year old boy who was involved in a high speed traffic accident with blunt injury to his thorax and abdomen. He was referred from a peripheral hospital in Oman for further management at Sultan Qaboos University Hospital. A spiral CT scan of thorax and abdomen with image reformation helped in the early diagnosis and management of the traumatic rupture of his right hemidiaphragm

Malignant otitis externa and temporal bone osteomyelitis: Complete recovery following the adjunctive use of hyperbaric oxygen and antibiotics

Malignant otitis externa is an uncommon potentially fatal infection of the external ear caused by Pseudomonas aeruginosa. It occurs usually in elderly diabetics and is followed by rapid invasion of the deep periauricular tissue and bone leading to osteomyelitis. We present such a patient whose disease persisted inspite of two months antibiotic therapy until the concomitant use of hyperbaric oxygen therapy was given over a period of four weeks. Complete recovery followed