Rituximab treatment in myasthaenia gravis

Myasthaenia gravis [MG] is an autoimmune disease involving the postsynaptic receptors in the neuromuscular junction. The condition is characterised by fatigable weakness of the skeletal muscles and is uncommon in children. Acetylcholinesterase inhibitors and immune-modifying medications are usually considered the mainstay of treatment. However, these medications have to be given on a lifelong basis so that patients remain in remission; furthermore, drug-related side-effects can have a major impact on quality of life. We report two paediatric cases who were treated for MG at the Sultan Qaboos University Hospital, Muscat, Oman, in 2007 and 2008, respectively. Rituximab was eventually administered to each patient after their condition failed to improve despite several years of standard treatment with acetylcholinesterase inhibitors and immune-modifying medications. Overall, rituximab resulted in complete remission in one case and significant clinical improvement in the other case

Segmental spinal muscular atrophy localised to the lower limbs - first case from Oman

Spinal muscular atrophy [SMA] is a genetic lower motor neuron disease. It usually involves all of the skeletal muscles innervated by the anterior horn cells of the spinal cord. In rare cases, there is also localized involvement of the spinal cord. We report a 10-year-old boy who presented to the Sultan Qaboos University Hospital, Muscat, Oman, in 2015 with muscle weakness restricted to the lower limbs. The presence of a homozygous deletion within the survival of motor neuron 1 gene confirmed the diagnosis of SMA. To the best of the authors' knowledge, this is the first report of an Omani patient with segmental SMA involving only the lower limbs. Treatment for this rare and relatively benign form of SMA is symptomatic and includes physiotherapy

Coexistence of autism spectrum disorders among three children with tuberous sclerosis complex case reports and review of literature

Tuberous sclerosis complex [TSC] is a multisystem neurocutaneous disorder inherited in an autosomal dominant manner and characterised by benign tumours in the brain and other vital organs such as the heart, eyes, kidneys, skin and lungs. Links between autism spectrum disorder [ASD] and TSC have been postulated for many decades, with TSC considered to be one of the main syndromic causes of ASD; however, precise confirmation of a relationship between these two disorders required validated diagnostic tools. Fortunately, accurate evaluation of this relationship is now possible with standardised criteria for ASD diagnosis. We report three children who presented to the Sultan Qaboos University Hospital, Muscat, Oman, between 2014 and 2015 with ASD and TSC. These cases demonstrate the spectrum of neuropsychiatric involvement in TSC and highlight the importance of screening children with TSC for ASD features in order to encourage the early enrolment of these children in educational and rehabilitation programmes

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

Septo-optic dysplasia complex: clinical and radiological manifestations in Omani children

Septo-optic dysplasia [SOD], also known as de-Morsier's syndrome, is a rare disorder characterized by any combination of optic nerve hypoplasia [ONH], pituitary gland hypoplasia, and midline abnormalities of the brain including absence of septum pellucidum and corpus callosum dysgenesis. It is typically diagnosed in infancy and has a variable presentation that includes visual, neurologic, and/or hypothalamic-pituitary endocrine deficits. To demonstrate the ophthalmic, endocrine, and neurologic spectrum of SOD in five Omani children and address the crucial role of high-resolution neuroimaging for its early and accurate diagnosis. A retrospective chart review was performed in 2010 of all children in the pediatric ophthalmology database of Sultan Qaboos University Hospital [SQUH] who were diagnosed to have ONH. All relevantdemographic, ophthalmic, neurologic, endocrine, and neuro-radiological manifestations were recorded in a data collection form. All previous neuroimaging results were reviewed by a neuro-radiologist. Five patients [four males, one female] with the diagnosis of ONH were included in the study. They presented during the period 1998-2008. All patients were born at term, with normal birth weights to healthy mothers with insignificant antenatal history. Age at presentation ranged from three months to one year. Manifestations at presentation included severe visual impairment [5/5], neonatal hypoglycemia [3/5], seizure disorder [2/5], and failure to thrive [4/5]. ONH was bilateral in 3/5 patients and unilateral in [2/5]. Brain and orbit imaging revealed varying anomalies in all patients. These included absent septum pellucidum [3/5], severe corpus callosum agenesis [1/5], ectopic pituitary [5/5], falx cerebri deficiency [1/5], optic nerve hypoplasia [5/5], optic chiasmal hypoplasia [5/5], and olfactory tract hypoplasia [1/5]. Endocrine deficits were detected in 4/5 patients [3 with panhypopituitarism, and 1 with growth hormone deficiency] and necessitated replacement therapy. SOD is a clinically heterogeneous disorder with a wide spectrum of ophthalmic, endocrine, and neurologic manifestations. All features might not be present in a single patient. A high consanguinity rate and lack of history of alcohol and drug use were observed in our cohort. Most affected children present first to the pediatrician with failure to thrive. Radiological confirmation of ONH necessitates high-resolution imaging and interpretation by an experienced neuro-radiologist. In our cohort, all patients with ONH had associated optic chiasmal hypoplasia. Early detection and treatment reduces disease-related morbidity, and can be life saving

Evaluation of children with global developmental delay: a prospective study at sultan qaboos university hospital, Oman

A prospective study was designed to analyze risk factors and clinical features in children with global developmental delay [GDD] at our hospital. No previous data is available on GDD from Oman. This study was conducted at Sultan Qaboos University Hospital from January 2008 until June 2009. All the children aged 5 years or less, referred with suspected GDD were included in the study. Data was analyzed to determine the underlying etiology. The children with neurodegenerative disease and muscular dystrophy were excluded from the study. One hundred and ten children, 59 males [53.6%] and 51 females [46.4%] were included in the study. The mean age at initial evaluation was 13.29 months. An underlying etiology was determined in 79 [71.8%] children. Perinatal history was associated with significant difference in detection of etiology [p=0.039]. Abnormal neurological examination was a significant factor in detection of the underlying etiology. Magnetic resonance imaging [MRI] in 105 children and metabolic screening in 93 children were the most frequently ordered investigations. Abnormal imaging, MRI [p=0.001], CT scan [p=0.036] and metabolic screening [p=0.034] were significantly associated with detection of etiology. Etiology was detected in 71.8% of the children. MRI was the most significant investigation to detect the abnormality

Vehicular entrapment and heat stroke in three children: is it a form of child neglect?

The medical records of three children who were entrapped inside vehicles are reviewed and their outcome following the incidents were assessed in this report. The children developed heat stroke following the incidents and survived after several days in coma but with severe cognitive functions impairment. Two of the children were left with hyperactivity and attention deficit, while the third had active epilepsy. Vehicular entrapment heat stroke is one of the preventable brain injuries in children. Several children get entrapped in cars or other vehicles yearly and survivors are left with significant brain damage. The usual cause for brain damage is heat stroke the lesson learned was to never leave children unattended in cars. Therefore, it is essential to double check that doors are locked when leaving children unattended near vehicles

rare presentation of attention deficit/hyperactivity disorder: a recommendation to be more alert

We report the case of a 7 year-old Omani girl with tuberous sclerosis [TS], attention deficit hyperactivity disorder [ADHD] and bipolar disorder [BD], at Sultan Qaboos University Hospital [SQUH], Oman. For a year she had been suffering from hyperactivity, aggression, over talkativeness, insomnia, risk-taking behaviour, distractibility, poor attention and seizures. This clinical picture evolved slowly, but was progressive in nature. Before the consultation at her local health centre, she was given four drugs without being properly investigated; she continued to deteriorate. In SQUH, she showed hyperactive-impulsive behaviour, elation, flight of ideas, preoccupation with self and high self-confidence. The physical examination revealed multiple hypomelanotic patches all over the body and a shagreen patch at the sacral area. The electroencephalogram showed generalised epileptic discharges, while brain imaging showed multiple parenchymal calcified foci in both cerebral hemispheres. Other investigations were normal. She was given valproate, and then a psychostimulant, methylphenidate, that controlled her state. Our aim in reporting this case is not only because it is unique, given its rare comorbidity [ADHD, TS and BD], but also to remind our junior colleagues to be alert to the possibility of an underlying neuropathology when performing clinical examinations and investigations of children presenting with neuropsychiatric symptoms

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

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

Clinical characteristics of childhood Guillain-Barr‚ syndrome

To find the incidence, clinical pattern and outcome of Guillain-Barre syndrome in the Sultanate of Oman in children less than 15 years of age. All children under fifteen years with acute flaccid paralysis were admitted to identify the underlying cause. The diagnosis of Gullain Barre syndrome was made by clinical criteria, cerebrospinal fluid findings and nerve conduction studies. Intravenous immunoglobulins were given to all and two needed plasmapharesis. Sixty-one children were diagnosed as Guillan-Barr‚ syndrome and constituted 20% of cases of acute flaccid paralysis. Males 39 [63.9%] outnumbered females [36.1%].The annual incidence below 15 years was 0.45/100,000. Cranial nerves were involved in 31 [50.8%] children. Albumino-cytological dissociation in cerebrospinal fluid was seen in 42/45[93.3%] cases. Acute relapse was seen in six [9.8%] cases. Eleven children [18.3%] needed ventilation. Complete recovery was seen in 45 to 310 days [mean 69.1 days]. Three children [4.9%] were left with minimal residual deficit. There was no mortality. Guillain Barre syndrome is a serious disease, although recovery is the rule in children. The disease is associated with very low mortality and long term morbidity. Immunoglobulins have reduced the duration of hospital stay and the total time needed for recovery

Congential nasal pyriform aperture stenosid: 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 1/2-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