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. METHODS: 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.

Paediatric Blunt Torso Trauma: Injury mechanisms, patterns and outcomes among children requiring hospitalisation at the Sultan Qaboos University Hospital, Oman.

OBJECTIVES: Trauma is the greatest cause of morbidity and mortality in paediatric/adolescent populations worldwide. This study aimed to describe trauma mechanisms, patterns and outcomes among children with blunt torso trauma admitted to the Sultan Qaboos University Hospital (SQUH) in Muscat, Oman. METHODS: This retrospective single-centre study involved all children ≤12 years old with blunt torso trauma admitted for paediatric surgical care at SQUH between January 2009 and December 2013. Medical records were analysed to collect demographic and clinical data. RESULTS: A total of 70 children were admitted with blunt torso trauma during the study period, including 39 (55.7%) male patients. The mean age was 5.19 ± 2.66 years. Of the cohort, 35 children (50.0%) received their injuries after having been hit by cars as pedestrians, while 19 (27.1%) were injured by falls, 12 (17.1%) during car accidents as passengers and four (5.7%) by falling heavy objects. According to computed tomography scans, thoracic injuries were most common (65.7%), followed by abdominal injuries (42.9%). The most commonly involved solid organs were the liver (15.7%) and spleen (11.4%). The majority of the patients were managed conservatively (92.9%) with a good outcome (74.3%). The mortality rate was 7.1%. Most deaths were due to multisystem involvement. CONCLUSION: Among children with blunt torso trauma admitted to SQUH, the main mechanism of injury was motor vehicle accidents. As a result, parental education and enforcement of infant car seat/child seat belt laws are recommended. Conservative management was the most successful approach.

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.

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.

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 × 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.

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.

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.

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.

Portal vein thrombosis postlaparoscopic splenectomy presenting with infarction of gut: review of risk factors, investigations, postoperative surveillance, and management.

Portal vein thrombosis after laparoscopic splenectomy is a known complication even though it is underappreciated. Presenting symptoms are usually mild and nonspecific. Progression to intestinal infarction and portal hypertension are potentially life threatening complications. The short hospital stay associated with laparoscopic approach could delay early diagnosis, unless routine imaging studies is planned after discharge. We present a patient who after laparoscopic splenectomy for idiopathic thrombocytopenic purpura developed portal vein thrombosis leading to infarction of small intestine 9 days after the surgery. She made uneventful recovery after resection and anticoagulation. Literature is reviewed to assess the risk factors and discuss the present status regarding investigations, surveillance in postoperative period, management of established case, and role of prophylactic anticoagulation.

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.

Pattern of childhood neuronal migrational disorders in Oman.

OBJECTIVE: To record the pattern of different neuronal migrational disorders (NMD) and their associated neurological conditions. METHODS: The data were collected at the Child Neurology Services of Sultan Qaboos University Hospital, Oman, from January 1993 to September 2006 from all children with psychomotor delay and epilepsy, who underwent brain imaging (mostly MRI). The MR imaging was used for the diagnosis of a neuronal migration anomaly. RESULTS: There were 86 cases of NMD. Corpus callosum agenesis and lissencephaly/pachygyria formed the major group. There were 48 cases of corpus callosum agenesis, and 16 cases of lissencephaly/pachygyria. Other disorders were 10 cases of heterotopias, 5 schizencephaly, 3 holoprosencephaly, 2 polymicrogyria, and one each of hemimegalencephaly, and hydranencephaly. Developmental delay was the most common associated finding noted in 80 (93%) cases. Sixty-seven (77.9%) cases had motor deficit. Forty out of 86 (46.5%) cases had epilepsy. Partial/partial complex seizures were the most common at 13 out of 40 (32.5%). Syndromic seizures were seen in 11 out of 40 (27.5%) cases. The seizures were controlled in only 3/40 (7.5%) cases. CONCLUSION: The NMD constitute a significant number of child neurology patients with psychomotor delay and intractable epilepsy. Exogenic and genetic factors affecting the early embryonic and fetal development from sixth to twenty-sixth weeks of gestation result in NMD. Recent genetic studies are defining the underlying mechanism and these studies will help in early diagnosis and possible prevention of NMD.

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.