Renal mass: is it always worrisome?

SUMMARY: 10-month male with large abdominal mass.

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.

Nephropathic Cystinosis: First reported case in Oman.

Cystinosis is an autosomal recessive, lysosomal storage disease characterised by the accumulation of the amino acid cystine in different organs and tissues. It is a multisystemic disease that can present with renal and extra renal manifestations. There are three types of cystinosis, infantile nephropathic cystinosis being the most severe form. In this report we present the classic clinical features of nephropathic cystinosis in an Omani child. This condition remains quite rare in the Middle East and is the first reported case of nephropathic cystinosis in the Omani population.

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.

Clinical characteristics of childhood guillain-barré syndrome.

OBJECTIVES: 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. METHODS: 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. RESULTS: Sixty-one children were diagnosed as Guillan-Barré 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. CONCLUSIONS: 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.

Clinical and genetic study of spinal muscular atrophies in Oman.

This article presents a retrospective study and a prospective study on spinal muscular atrophy in Oman. For the retrospective study, data were collected from neurophysiology records, from both inpatient and outpatient files. The prospective study was conducted on children as they presented to the hospital and was funded by Sultan Qaboos University. The patients of spinal muscular atrophy were classified into types I, II, and III based on their clinical features as per the International Spinal Muscular Atrophy Consortium classification. The incidence of spinal muscular atrophy was about 1 per 6000 live births. Spinal muscular atrophy type I formed 65% of the cases. Survival motor neuron deletion was seen in 70% of cases of all types of spinal muscular atrophy. The deletion was 83% in spinal muscular atrophy type I. A further study to look into the nondeletional cases is in progress.

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.

Pattern of childhood epilepsies with neuronal migrational disorders in Oman.

Neuronal migrational disorders form a significant cause of psychomotor delay and intractable epilepsy in children. Pediatric neurology services are available at Sultan Qaboos University Hospital, Muscat, Oman, which is a tertiary care hospital for the whole country. The children undergoing evaluation for developmental delay and epilepsy formed the subjects of the study. Data were analyzed from children found to have neuronal migrational disorders on imaging (computed tomography [CT] or magnetic resonance imaging [MRI]). There were 40 cases of neuronal migrational disorders. Corpus callosum agenesis and lissencephaly or pachygyria formed the major group. There were 22 cases of corpus callosum agenesis, 12 of lissencephaly or pachygyria, 2 of schizencephaly, and 1 each of polymicrogyria, holoprosencephaly, hydranecephaly, and hemimegalencephaly. Nineteen of these 40 (47.5%) cases of neuronal migrational disorders had epilepsy. The break-down was 8 of 22 cases of corpus callosum agenesis (36%), 7 of 12 (58.3%) cases of lissencephaly or pachygyria, and 1 each of polymicrogyria, hydranencephaly, and hemimegalencephaly. The family history of developmental delay, similar to the index case, was present in two children with lissencephaly. However, the brain imaging did not reveal the abnormality. The types of seizures were infantile spasms in five, tonic-clonic in nine, myoclonic in two, partial in one, and mixed in five. Nineteen of 40 cases of neuronal migrational disorders had epilepsy. Only 2 of 19 (10.5%) with epilepsy had good seizure control. This raises the possibility of more and more surgical intervention in the management of such cases. Neuronal migrational disorders are related to exogenous and genetic factors from the 6th to 26th weeks of gestation. Molecular and genetic research is defining the mechanism of these disorders. This could help in early diagnosis, prevention, and eventual gene therapy in such conditions.

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. In addition, we observed that early onset was associated with rapid deterioration and death. Optic nerve involvement and hyperintensity of the brainstem nuclei on magnetic resonance imaging (MRI) are two new features described in this report.

Ten-year prospective study (clinical spectrum) of childhood Guillain-Barré syndrome in the Arabian peninsula: comparison of outcome in patients in the pre- and post-intravenous immunoglobulin eras.

A prospective study of Guillain-Barré syndrome from January 1992 to December 2001 was undertaken. Intravenous immunoglobulins were used in all patients. All patients were followed up until complete recovery. Various parameters, such as onset of weakness, duration of hospital stay, ventilation requirement, residual deficit, and mortality, were recorded. Acute relapses and fluctuations were also noted. The pattern of this group was compared with patients before 1992, who were not given intravenous immunoglobulins in the Sultanate of Oman. Our data were compared with a few studies prior to 1992 from the medical literature. Our study revealed a definite benefit with intravenous immunoglobulins. The disease course and hospital stay were shortened. Fewer patients needed ventilation. There was no mortality, and the residual deficit was less than 5%. Occasional relapses at a later stage in the course of illness have been noted in acute Guillain-Barré syndrome. However, acute relapse, a new phenomenon that was not seen in the pre-intravenous immunoglobulin era, stood at 11.9%. Intravenous immunoglobulins have made a significant difference in the outcome of Guillain-Barré syndrome, but one has to be aware of acute relapses, which usually occur in the first 2 to 3 weeks after administration.

Clinical profile of myasthenia gravis in the Sultanate of Oman.

OBJECTIVE: Clinical study and follow up of myasthenia gravis patients in Oman. METHODS: Follow up of 50 consecutive myasthenia gravis patients referred to the Sultan Qaboos University Hospital, Oman for a median period of 3 years from 1997 to 2000. We based the diagnosis on the clinical picture, repetitive nerve stimulation tests and edrophonium test. We performed a computerized tomography scan of the chest and anti-acetylcholine receptor antibodies. We reviewed the results of immuno modulatory treatment including thymectomy and compared these with other studies. RESULTS: Of 50 patients, 6 had purely ocular myasthenia. Of the 44 with generalized myasthenia, 28 had bulbar involvement and 12 required ventilatory support. Eight out of 29 thymectomized patients had drug free remission after 2 years. There was worsening of myasthenic symptoms in only one out of 8 pregnancies and deliveries. CONCLUSION: Bulbar and ventilatory involvement are more common in our series as compared with western data. Pregnancy and delivery were well tolerated.

Clinical profile of myasthenia gravis in the Sultanate of Oman.

OBJECTIVE: Clinical study and follow up of myasthenia gravis patients in Oman. METHODS: Follow up of 50 consecutive myasthenia gravis patients referred to the Sultan Qaboos University Hospital, Oman for a median period of 3 years from 1997 to 2000. We based the diagnosis on the clinical picture, repetitive nerve stimulation tests and edrophonium test. We performed a computerized tomography scan of the chest and anti-acetylcholine receptor antibodies. We reviewed the results of immuno modulatory treatment including thymectomy and compared these with other studies RESULTS: Of 50 patients, 6 had purely ocular myasthenia. Of the 44 with generalized myasthenia, 28 had bulbar involvement and 12 required ventilatory support. Eight out of 29 thymectomized patients had drug free remission after 2 years. There was worsening of myasthenic symptoms in only one out of 8 pregnancies and deliveries. CONCLUSION: Bulbar and ventilatory involvement are more common in our series as compared with western data. Pregnancy and delivery were well tolerated.

A profile of childhood neuropathies at a university hospital in Oman.

OBJECTIVE: To analyze all cases of childhood neuropathies (under 14 years of age) and report on their profile, pattern, clinical features and management. METHODS: Children with acute flaccid paralysis, longstanding weakness of extremities, neuroregression and children receiving anti cancer drugs with symptoms suggestive of neuropathy were evaluated for evidence of peripheral neuropathy. The evaluation of children with acute flaccid paralysis was a prospective study from January 1992 through to December 2000. The rest of the patients were studied retrospectively from the hospital medical records, pediatric neurology outpatient clinic and the neurophysiology laboratory, Sultan Qaboos University Hospital, Al-Khod, Oman RESULTS: Eighty-two (39 Male: 43 Female) children were found to have peripheral neuropathy. Acute Guillain-Barré [corrected] syndrome was the most common with 37 children (45.1%), followed by genetic neuropathies [hereditary motor and sensory neuropathy with 17 (20.7%), hereditary sensory and autonomic neuropathy with 2 (2.4%), hereditary spastic paraplegia associated neuropathy with 9 (11%) and metachromatic leucodystrophy with 9 (11%)]. Chronic inflammatory demyelinating neuropathy was seen in 5 (6.1%) and vincristine induced neuropathy in 3 (3.5%) children. CONCLUSION: Acute Guillain-Barré [corrected] syndrome is the most common neuropathy amongst the acquired neuropathies. The treatable neuropathies constituted 54.7% (45 children) and the preventable genetic neuropathies accounted for the remaining 45.3% (37 children)

Syndrome of cerebrospinal fluid hypovolemia following lumbar puncture cerebrospinal fluid leak in a patient with idiopathic intracranial hypertension.

An 11-year-old girl presented with headache of 3 months' duration. There was bilateral disc edema. The cerebrospinal fluid pressure was 50 cm of water with normal cerebrospinal fluid cytology and biochemistry. She developed severe headache (different and disabling), dizziness, vomiting, and backache on sitting up 6 hours after lumbar puncture, and lying supine relieved all of her symptoms. Intravenous fluids, analgesics, and complete bed rest did not relieve her symptoms over the next 72 hours. She was completely relieved of her symptoms on receiving two tablets of Caffergot containing 200 mg of caffeine and 2 mg of ergotamine 72 hours after lumbar puncture. The symptoms recurred 48 hours later, and a repeat dose of Caffergot was required. Magnetic resonance imaging (MRI) done 96 hours after lumbar puncture revealed the entire dura overlying the brain, including the posterior fossa, showing intense enhancement on contrast injection with leak at the lumbar puncture site. Oral caffeine (coffee, three times a day) was advised over 1 week. The patient remained asymptomatic, and a repeat MRI scan after 10 days showed complete clearing of the cerebrospinal fluid leak with no dural enhancement. The syndrome of cerebrospinal fluid hypovolemia following lumbar puncture is reported in a girl with idiopathic intracranial hypertension.

Eight-year study of childhood status epilepticus: midazolam infusion in management and outcome.

Sixty-eight children 2 months to 14 years of age were admitted with status epilepticus to Sultan Qaboos University Hospital from November 1993 to December 2001. Thirty-eight children (55.9%) had refractory status epilepticus and 30 (44.1%) had established status epilepticus. The children with refractory status epilepticus had received intravenous or per rectal diazepam and intravenous phenytoin/phenobarbital (either or both) before continuous infusion of midazolam was given. Fifty-one children received continuous midazolam infusion. In 38 children with refractory status epilepticus, the midazolam infusion was given in addition to the long-acting antiepilepsy drug, whereas 13 (18.8%) children needed only midazolam to control the established status epilepticus. Seventeen (25%) children were controlled with phenytoin sodium alone. Midazolam was given 0.15 mg/kg/minute initially as bolus in 1 minute, followed by 1 to 7 microg/kg/minute as continuous infusion. The status could not be controlled in one child (1.5%) suffering from neurodegenerative disease. Two children needed mechanical ventilation following prolonged apnea after diazepam administration in one and diazepam plus phenobarbital in the other. No metabolic derangements or compromise of vital functions was noted on midazolam infusion. All children made a complete recovery. There was one death related to meningoencephalitis.

Accidental tricyclic antidepressant poisoning in a 2 year-old boy.

We present a 2-year old boy with accidental ingestion of a tricyclic antidepressant and outline the clinical features, management and prevention. Despite ingesting a high dose of amitriptyline (20mg/kg) and showing serum levels above the toxic range (1380 ng/ml), our patient did not develop any life threatening complications. Gastric lavage followed by instillation of activated charcoal, repeated at 6 hours, along with supportive measures led to complete recovery in 48 hours. As children are often exposed to tricyclic antidepressant poisoning, their carers and physicians need to be well aware of the disorder and its management.