Combined immunodeficiency due to a homozygous mutation in ORAI1 that deletes the C-terminus that interacts with STIM 1.

ORAI1 is the pore-forming subunit of the calcium release-activated calcium channel responsible for calcium influx into cells triggered by endoplasmic reticulum store depletion. We report here a patient with severe combined immunodeficiency and absent store-operated calcium entry due to a novel mutation in ORAI1 that results in the expression of a C-terminally truncated protein that abolishes ORAI1 binding to STIM1.

Echocardiographic Evidence of Early Diastolic Dysfunction in Asymptomatic Children with Osteogenesis Imperfecta.

OBJECTIVES: Structural and functional cardiovascular abnormalities have been reported in adults with osteogenesis imperfecta (OI); however, there is a lack of paediatric literature on this topic. This study aimed to investigate cardiovascular abnormalities in children with OI in comparison to a control group. METHODS: This case-control study was conducted at the Sultan Qaboos University Hospital in Muscat, Oman, between May 2013 and August 2014. Data from eight patients with OI and 24 healthy controls were compared using conventional and tissue Doppler echocardiography (TDE). RESULTS: The OI group had significantly lower peak early mitral valve flow velocity (P = 0.027), peak a-wave reversal in the pulmonary vein (P = 0.030) and peak early diastolic velocity of the mitral valve and upper septum (P = 0.001 each). The peak late diastolic velocities of the mitral valve (P = 0.002) and the upper septum (P = 0.037) were significantly higher in the OI group; however, the peak early/late diastolic velocity ratios of the mitral valve (P = 0.002) and upper septum (P = 0.001) were significantly lower. Left ventricular dimensions and aortic and pulmonary artery diameters were larger in the OI group when indexed for body surface area. Both groups had normal systolic cardiac function. CONCLUSION: Children with OI had normal systolic cardiac function. However, changes in myocardial tissue Doppler velocities were suggestive of early diastolic cardiac dysfunction. They also had increased left ventricular dimensions and greater vessel diameters. These findings indicate the need for early and detailed structural and functional echocardiographic assessment and follow-up of young patients with OI.

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.

Eating epilepsy or feeding epilepsy in an infant.

A five month old infant is reported with Eating Epilepsy (feeding epilepsy/feeding related epilepsy). This is an uncommon type of reflex epilepsy in children, and should be considered if the history and investigations for gastro esophageal reflux and apparent life threatening event are negative. A clear stepwise history helps in diagnosis.

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.

Intravenous immunoglobulin in the treatment of vancomycin-induced toxic epidermal necrolysis.

Toxic epidermal necrolysis (TEN), an uncommon but potentially life-threatening skin reaction, is frequently induced by drugs. The mucocutaneous reaction is characterised by bullous detachment of the epidermis and mucous membranes. We present a 9-month-old male with methylmalonic acidaemia, generalised hypotonia, and global developmental delay. He presented with a 3-day history of fever, cough, shortness of breath, and vomiting. Eruption appeared after 5 days of vancomycin treatment. The eruption involved almost 60% of the total body surface area and both eyes. He was successfully treated with intravenous immunoglobulin (IVIG), antibiotics, and appropriate wound management and made a full recovery with negligible sequelae despite the severity of his disease. Important components of successful treatment include early recognition, intensive care, prompt withdrawal of the causative agent, early administration of IVIG, appropriate fluid resuscitation, and control of infection. IVIG might be beneficial in the treatment of TEN; however, controlled studies are needed to evaluate IVIG compared to other modalities.

A Female Child with Skin Lesions and Seizures: Case report of Incontinentia Pigmenti.

Incontinentia Pigmenti (IP), (OMIM # 308300), is a rare X-linked dominant condition. It is a multisystemic disease with neuroectodermal findings involving the skin, eyes, hair, nails, teeth, and central nervous system. It is usually lethal in males; the disease has variable expression in an affected female. We report the case of a 6 month old girl who presented at Sultan Qaboos University Hospital, Oman, with neonatal seizures and hypopigemented/hyperpigmented skin lesions. She had multiple ophthalmic abnormalities and neurological manifestations which are discussed in this report.

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.

Merosin-deficient congenital muscular dystrophy in an Omani boy.

Merosin-deficient congenital muscular dystrophy is an autosomal recessive disease that can manifest differently in different ethnic groups. This often presents as a floppy infant, and normal mental development. The creatine kinase is usually elevated with white matter abnormalities on brain imaging. In this report, we describe an infant with Merosin-deficient congenital muscular dystrophy who presented with delayed motor milestones and hypotonia. The clinical features, biopsy findings, and neuroimaging abnormalities in our patient are described.

Congenital nasal pyriform aperture stenosis: first case report in oman.

Congenital nasal pyriform aperture stenosis (CNPAS) is a recently defined clinical entity that causes airway obstruction in the neonate as a result of narrowing of the nasal pyriform aperture. The pyriform aperture is the narrowest, most anterior portion of the nasal airway, and a slight decrease in its cross sectional area will significantly increase the nasal airway resistance. This entity should be kept in the differential diagnosis of any neonate or infant with signs and symptoms of upper air way obstruction. The CNPAS presents with symptoms of nasal airway obstruction, which are often characterized by episodic apnea and cyclic cynosis.

Transient opsoclonus-myoclonus syndrome secondary to neuroblastoma.

We report a 2.5-year-old girl who presented with acute history of fluctuating level of consciousness in the form of drowsiness, extreme irritability, and involuntary abnormal movements in the form of shaking of the whole body. She was treated with acyclovir empirically, contemplating herpes simplex virus encephalitis. Overtime she improved substantially. The opsoclonus, myoclonus, and ataxia disappeared without treatment. However, 6 weeks later she presented again with classic opsoclonus-myoclonus syndrome. The investigations revealed neuroblastoma. This case illustrates that transient opsoclonus-myoclonus may occur with neuroblastoma and should not be assumed to be due to viral cause. Thus, a thorough search for occult neuroblastoma should be initiated even if opsoclonus-myoclonus resolves spontaneously.