ROHHAD Syndrome: The Girl who Forgets to Breathe.

Background: ROHHAD syndrome is an exceedingly rare cause of central hypoventilation. Case characteristics: A 7-year-old girl with ROHHAD syndrome who had central hypoventilation, rapid weight gain, multiple cardiac arrests and hyperprolactinemia. Outcome: She required prolonged and repeated ventilation, and finally died due to complications of ventilation. Message: ROHHAD Syndrome should be suspected in any child who presents with obesity, behavioral changes or autonomic instability following a neural crest tumor.

Correlation between deletion patterns of SMN and NAIP genes and the clinical features of spinal muscular atrophy in Indian patients.

BACKGROUND: Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder involving degeneration of anterior horn cells of spinal cord resulting in progressive muscle weakness and atrophy. AIMS: The molecular analysis of two marker genes for spinal muscular atrophy (SMA) i.e, the survival motor neuron gene (SMN) and the neuronal apoptosis inhibitory protein gene (NAIP) was conducted in 39 Indian patients with clinical symptoms of SMA. Out of these, 28 showed homozygous deletions and the phenotypic features of these SMA patients were compared with the corresponding genotypes. SETTINGS: A tertiary care teaching Hospital. DESIGN: This is a prospective hospital based study. MATERIALS AND METHODS: Polymerase chain reaction (PCR) combined with restriction fragment length polymorphism (RFLP) was used to detect the deletion of exon 7 and exon 8 of SMN1 gene, as well as multiplex PCR for exon 5 and 13 of NAIP gene. RESULTS: Exons 7 and 8 of SMN and NAIP (exon 5) were homozygously deleted in 73% of SMA I and 27% of SMA II patients. SMN exon 7 and 8 deletions without NAIP deletions were seen in 27% of type I SMA and 46% of SMA type II patients. Two patients of type III SMA showed single deletion of SMN exon 7 along with 27% of SMA type II patients. CONCLUSION: With the advent of molecular biology techniques, SMN gene deletion studies have become the first line of investigation for confirmation of a clinical diagnosis of SMA. The findings of homozygous deletions of exons 7 and/or 8 of SMN1 gene confirms the diagnosis of SMA, even in patients with atypical clinical features. Deletions of NAIP gene were mainly seen in severely affected patients, hence is useful for predicting the prognosis.

Pediatric epilepsy -- an Indian perspective.

Prevalence studies from India suggest that epilepsy prevalence is similar to developed nations. Neurocysticercosis (NCC) predominates as an etiology. A large treatment gap is still a public health problem. Benign epilepsies and West syndrome appear to be underrepresented in studies on classification of seizures/syndromes. Febrile seizures prevalence in India is similar to other countries and appear to be as benign. Risk factors of intractable epilepsy (IE) in Indian studies include early age of onset, neurodevelopmental abnormalities and certain seizure types. Perinatal injuries underlie many IE. Many IE are not truly intractable and respond to simple therapeutic measures. The ketogenic diet and surgery are other methods now being used in Indian centers. Neurocysticercosis and neonatal hypoglycemic brain injury, two widely prevalent etiologies are reviewed in detail.

Recurrent acute transverse myelopathy: association with antiphospholipid antibody syndrome.

A seven-year-old boy presented with a second episode of acute transverse myelopathy. The first episode had responded dramatically to methylprednisolone. The manifestations of the second episode did not respond to methylprednisolone or IVIG. He showed persistently raised levels of antiphospholipid antibodies in the serum. Primary conditions like collagen vascular diseases, malignancy, exposure to drugs and HIV infection, which are known to be associated with the raised titers of these antibodies were ruled out clinically and by investigations. Recurrent transverse myelopathy is a rare event in childhood and reports of its association with Antiphospholipid Antibody Syndrome (APLAS) are scanty. The etiological role for these antibodies remains to be established. However, once the diagnosis is established, it may be prudent to treat the condition with agents and procedures to bring about a decrease in their titers. Long-term therapy to prevent thromboembolic complications of APLAS may also be instituted.

Head up tilt test in the diagnosis of neurocardiogenic syncope in childhood and adolescence.

BACKGROUND: Neurocardiogenic syncope (NCS) is a common paroxysmal disorder that is often misdiagnosed as a seizure disorder. Head up tilt test (HUTT) has been used to confirm this diagnosis. There is no data available of its use in children / adolescents from India. AIM: To study the usefulness of the HUTT in children and adolescents with suspected NCS. SETTINGS AND DESIGN: This was a part retrospective and later prospective study set in a tertiary child neurology outpatient department (OPD). MATERIAL AND METHODS: Patients with a strong clinical suspicion of syncope were recruited for the study. Clinical and treatment details were either retrieved from the chart or prospectively recorded in later patients. The HUTT was then carried out at baseline and after provocation and the results correlated with the clinical diagnosis. Results: Eighteen children with a mean age of 10.8 years were studied. Eight had precipitating factors. Thirteen had premonitory symptoms. Pallor, temperature change, diaphoresis, headache, tonic / clonic movements, post-ictal confusion and peri-ictal headache were symptoms noticed. Sixteen had a positive HUTT. Seven were on long-term anti-epileptic drugs (AEDs). Two had epileptiform abnormalities on their electroencephalogram (EEG). CONCLUSION: The diagnosis of syncope is often confused with epilepsy. Head up tilt test has a high sensitivity in the diagnosis of NCS in children / adolescents. It is fairly safe and easy to perform.

Unrecognised ventriculitis/meningitis presenting as hydrocephalus in infancy.

Infantile hydrocephalus due to unrecognized neonatal-onset meningitis/ventriculitis, was studied retrospectively using 1991-1998 chart review. Seventy two patients with hydrocephalus were reviewed. Thirteen infants had hydrocephalus associated with active meningitis/ventriculitis which had remained unrecognized. Active meningitis/ventriculitis was confirmed by the finding of an abnormal lumbar and ventricular CSF with or without positive culture. All had perinatal risk factors and 10/13 had been given antibiotics in the postnatal period. 6/13 infants appeared to be well. The most common presentation was increasing head size. All lumbar and ventricular CSFs were abnormal and 10/13 had positive cultures as well. Imaging revealed hydrocephalus in all. The infants were treated with antibiotics for a mean of 32.8 days before VP shunting. 7/11 were severely disabled. Unrecognized active meningitis/ventriculitis is an important cause of infantile hydrocephalus.