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.

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.

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.

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.

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.

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.

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.

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.

Cerebrospinal fluid involvement in a case of visceral leishmaniasis associated with hemophagocytic lymphohistiocytosis.

Hemophagocytic Lymphohistiocytosis (HLH) implies a benign generalized histiocytic proliferate with erythrophagocytosis and it includes familial hemophagocytic lymphohistiocytosis and secondary hemophgocytosis. Spinal fluid changes like mild to moderate pleocytosis (most of the cells are lymphocytes and macrophages) and sometimes hemophagocytosis are seen in primary HLH but are not reported in secondary HLH. Here we report a case of a previously healthy 10 months old male infant who was diagnosed as familial HLH with evidence of CSF hemophagocytosis.

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.

Pontobulbar palsy and neurosensory deafness (Brown-Vialetto-van Laere syndrome) with hyperintense brainstem nuclei on magnetic resonance imaging: new finding in three siblings.

Three siblings (one boy and two girls) with Brown-Vialetto-van Laere syndrome are reported. A peculiar feature of onset with hearing loss in a patient with multiple cranial nerve palsies and a positive family history suggests this diagnosis. In our family, an autosomal recessive mode of inheritance was seen.