Diagnosis and management of pediatric acute liver failure: consensus recommendations of the Indian Society of Pediatric Gastroenterology, Hepatology, and Nutrition (ISPGHAN).

Timely diagnosis and management of pediatric acute liver failure (PALF) is of paramount importance to improve survival. The Indian Society of Pediatric Gastroenterology, Hepatology, and Nutrition invited national and international experts to identify and review important management and research questions. These covered the definition, age appropriate stepwise workup for the etiology, non-invasive diagnosis and management of cerebral edema, prognostic scores, criteria for listing for liver transplantation (LT) and bridging therapies in PALF.

Role of Inferior Vena Cava (IVC) Recanalization in Patients with Back Pain, Secondary to IVC Obstruction in Budd-Chiari Syndrome.

Purpose: To study the prevalence of back pain in patients of Budd-Chiari syndrome (BCS) with inferior vena cava (IVC) obstruction, and to evaluate the role of IVC recanalization in resolution of back pain.

Methods: All patients with BCS and IVC obstruction who underwent IVC recanalization between January 2018 and October 2022 were included. Patients with degenerative spine disease or other identifiable causes for back pain were excluded; remaining patients were assessed for the presence of back pain.

Evolution of Ohtahara syndrome to continuous spikes and waves during slow sleep in an infant.

Encephalopathy with electrical status epilepticus in sleep (ESES) is defined as an age-related and self-limited electroclinical syndrome whose etiology is unknown and characterized by continuous spikes and waves during slow sleep (CSWS). Typical CSWS starts at an age of 4 to 5 years and ends by an average of 11 years. We report on an unexpected finding of CSWS in an 18-month-old male whose previous EEG at age 45 days was grossly abnormal with the presence of a burst suppression pattern during wakefulness and sleep.

Spectrum of paediatric lysosomal storage disorders in oman.

Objectives: The aim of this study was to look at the spectrum of paediatric lysosomal disorders in Oman. Lysosomal storage disorders (LSDs) are a heterogeneous group of inherited metabolic diseases. Few studies on the birth prevalence and prevalence of LSDs have been reported from the Arabian Peninsula.

Novel mutation of GLRA1 in Omani families with hyperekplexia and mild mental retardation.

Hyperekplexia is characterized by neonatal hypertonia and exaggerated startle reflex in response to loud noise or tactile stimuli. Mutations in patients with hyperekplexia were evident in several genes encoding proteins involved in glycinergic neurotransmission, i.e.

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.

Tolosa-Hunt syndrome: MRI appearances.

A review of MRI findings in seven patients with Tolosa-Hunt syndrome was carried out. Seven patients presented with unilateral painful ophthalmoplegia. Magnetic resonance imaging studies were carried out to evaluate the cavernous sinuses and orbits.

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.

Prospective study of children with Guillain-Barre syndrome.

Objectives: To see the pattern, and outcome of Guillain Barre syndrome in this country.

Methods: All the children under fifteen years with final diagnosis of Guillain-Barre syndrome formed the subjects of the study. All children with acute flaccid paralysis were investigated for the underlying cause.

Huntington's disease in all (three) siblings and their one parent.

Three siblings (two girls and one boy) and their father are reported who developed Huntington's disease (HD). The two girls had onset at less than six years of age, while the boy started with symptoms at 12 years of age. The girl, the child number two, has expired and the youngest one is in a vegetative state.

Congenital fiber-type disproportion myopathy with type I fiber predominance and type II fiber smallness and atrophy--a sterological analysis.

Congenital myopathy with fiber-type disproportion is an established disorder, where type I fibers predominate with smallness of the same type. We report a family with three siblings (12-year-old boy, 9-year-old girl, and 6-year-old boy) with clinical features of congenital myopathy, where muscle biopsy in the eldest sib showed fiber-type disproportion. Type I fibers predominated with small and atrophic type II fibers which is unusual, especially when the child did not have any other clinical or biochemical abnormality to account for this type of variation.

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.

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.

Myclonic seizures in a young girl with Fishers variant of Guillain-Barre syndrome.

A 10-year-old girl with Fischer`s variant of acute Guillain-Barre syndrome is described. She had predominantly sensory involvement with autonomic dysfunction, ophthalmoplegia and myoclonic jerks. Myoclonus persisted for 2 weeks and the pupillary involvement was evident even after 2 months.

Severe autosomal recessive rippling muscle disease.

Rippling muscle disease (RMD) has previously been reported as a skeletal myopathy that was attributed to a defect in the sarcomere. Here we report a new form of RMD that is more severe, characterized by fatal arrhythmic cardiomyopathy and delayed bone age. Mortality has previously not been associated with RMD.

Poliomyelitis in Oman. II. Toward eradication.

In the past decade, the Sultanate of Oman has experienced three outbreaks of paralytic poliomyelitis--a widespread polio type 1 epidemic in 1988/1989, four cases of polio type 3 in three different regions in 1991, and a localized type 1 outbreak in 1993. The lessons learnt from each of these epidemics have guided us to modify and improve our polio eradication activities. Currently, these activities include administration of five primary and three booster doses of trivalent oral polio vaccine, yearly national immunization campaigns (NIDs) since 1995 with coverage of >90%, localized immunization campaigns, acute flaccid paralysis (AFP) surveillance which involves reporting of all cases by facsimile to the Department of Surveillance within 24 h of detecting a case and weekly zero reporting from 22 sentinel sites, and virological testing of stool specimens of all AFP cases and their close contacts at the national, World Health Organization accredited laboratory.

Poliomyelitis in Oman. I. The last outbreak?

Since 1988, the Sultanate of Oman has experienced three outbreaks of paralytic poliomyelitis. The last outbreak occurred in December 1993 and involved two children aged 10 months and 4 1/2 years. The children had received five and four doses, respectively, of trivalent oral polio vaccine (OPV) and lived in the same village.

Dandy-Walker syndrome in association with neurofibromatosis in monozygotic twins.

Dandy-Walker syndrome in monozygotic twins is reported. The twins reported, presented with delayed development, big head and dysmorphic features. In addition, there were significant cafe-au-lait spots on the trunk and other minor features consistent with the diagnosis of neurofibromatosis.

Long term intubation and successful weaning in two children with Guillain-Barre syndrome.

No definite criteria exists in Guillian-Barre syndrome in children regarding prolonged ventilation through an endo-tracheal tube without tracheostomy and successful weaning using a T-piece. Here we report two such cases of Guillian-Barre syndrome requiring prolonged intubation for 56 days and ventilation for 30 days and ultimately successfully weaning them using the T-piece. Both the children eventually made a complete recovery, highlighting the point that in children prolonged intubation and ventilation using the portex tube is equally good, if not, better than tracheostomy with its attendant risks.

Munchausen syndrome by proxy.

Five children (3F:2M), in the age group 1 years to 11 years, with Munchausen syndrome by proxy are reported from the Sultanate of Oman. They were seen over a four years period from 1996-1999. In all these children, the mother came up with history of uncontrolled epilepsy.

An infant with seizure-related bradycardia and asystole.

We describe an infant girl with ictal bradycardia and asystole who died during an episode of seizure, despite anti-epileptic therapy and permanent cardiac pacemaker implantation. The mechanism of ictal bradycardia and the need to recognize it are therefore discussed. Timely cardiac intervention and adequate anticonvulsant therapy are essential for successful management.

Munchausen syndrome by proxy.

Five children (3F:2M), in the age group 1 years to 11 years, with Munchausen syndrome by proxy are reported from the Sultanate of Oman. They were seen over a four years period from 1996-1999. In all these children, the mother came up with history of uncontrolled epilepsy.