Naveen Sankhyan

Clinical profile of scrub typhus in children and its association with hemophagocytic lymphohistiocytosis

ObjectiveTo study the clinical profile of children with scrub typhus and its association with hemophagocytic lymphohistiocytosis.MethodsChildren presenting with unexplained fever and multi-systemic involvement between May to December 2011 were tested for scrub typhus using IgM ELISA kits. Occurrence of Hemophagocytic lymphohistiocytosis in IgM positive cases of scrub typhus was studied.ResultsOf the 35 children with unexplained fever and multi-systemic involvement, 15 children (9 boys) tested positive for scrub typhus. Thrombocytopenia, hypoalbuminemia and raised hepatic transaminases were observed in all children. Out of seven children evaluated for hemophagocytic lymphohistiocytosis. 3 met the criteria for hemophagocytosis. Two children (one with hemophagocytic lymphohistiocytosis) died.ConclusionsScrub typhus is a common cause of unexplained fever in children in northern India. Hemophagocytic lymphohistiocytosis can occasionally complicate scrub typhus in children.

CNS vasculitis and stroke in neonatal lupus erythematosus: A case report and review of literature

Neonatal lupus erythematosus refers to the clinical spectrum of cardiac, cutaneous and other systemic abnormalities in neonates born to mothers with autoantibodies against Ro/SSA and La/SSB antigens. Isolated central nervous system involvement is very rare and has been described as transient vasculopathy only. We describe a 2-months-old girl who presented with acute ischemic stroke secondary to central nervous system vasculitis without any cardiac, cutaneous or hematological manifestations. The mother was pauci-symptomatic with raised anti-Ro autoantibody titers; the baby was positive for autoantibodies against Ro-antigen. Angiography confirmed vasculitis in cerebral vasculature. Our case highlights that neonatal lupus erythematosus can present with isolated nervous system manifestations and the vascular damage can be permanent in the form of vasculitis. Early recognition will help pediatricians identify such possible permanent complications in newborns with neonatal lupus erythematosus. A review of previously reported central nervous system manifestations of neonatal lupus is also presented.

Approach to a Child with Acute Flaccid Paralysis

Acute flaccid paralysis (AFP) is a clinical syndrome characterized by rapid onset weakness, that many times includes respiratory and bulbar weakness. AFP is a broad clinical entity with an array of diagnostic possibilities. An accurate and early diagnosis of the cause has important bearing on the management and prognosis. The immediate priorities in a child who presents with acute progressive weakness are; to detect and manage respiratory muscle weakness, to detect and manage bulbar weakness, evaluate for cardiovascular instability, detect and manage dyselectrolytemia or toxemia, and to detect and manage a spinal compression (traumatic, intraspinal collections). Urgent imaging of the spine is needed in settings where a spinal cord involvement is suspected. Compressive or traumatic spinal lesions may need early neurosurgical intervention. Anterior horn cell injury is usually due to direct viral infection. More distal pathologies are generally immune mediated and respond to immunomodulation. Irrespective of the cause, generalized weakness frequently affects respiratory and bulbar function. Such children need careful monitoring and respiratory support.

Childhood Anti-NMDA Receptor Encephalitis

ObjectivesTo study the clinical profile, and outcome of children with anti-N-methyl-D-aspartate receptor (NMDAR) encephalitis.MethodsThis is a retrospective case series of children <12 y of age, diagnosed with anti-NMDAR encephalitis at a tertiary care institute during the period, May 2013 through June 2015.ResultsTwenty patients were tested for suspected anti-NMDAR encephalitis over this 2 y period. Of these, six children were positive for anti-NMDAR antibodies. Four of these six children had completed treatment and two are currently receiving immunotherapy. Behavioral changes, psychosis, seizures and oro-lingual-facial dyskinesia were the presenting features. Extreme irritability, insomnia and mutism were noted in all the children. The symptoms were persistent, and the course was progressive over 4–8 wk duration. Neuroimaging and electroencephalography were non-specific. Intravenous pulse methylprednisolone and immunoglobulins were used as first-line therapeutic agents. Only one patient responded to first line immunotherapy; five out of six children required second-line immunotherapy. One patient recovered following rituximab, and two patients showed a good response to cyclophosphamide pulse therapy; two patients are currently under treatment with second line immunotherapeutic agents. Tumor screen was negative in all children.ConclusionsAnti-NMDAR encephalitis is rare but a potentially treatable condition. Timely recognition is essential because treatment is entirely different from other viral encephalitis. Aggressive immunotherapy is the key to a favourable outcome.

Consensus guidelines on management of childhood convulsive status epilepticus

JustificationStatus epilepticus has a wide etiological spectrum, and significant morbidity and mortality. Management using a pre-determined uniform protocol leads to better outcomes. Multiple protocols for management of childhood status epilepticus are available, without much consensus.ProcessA ‘Multi-disciplinary Consensus Development Workshop on Management of Status Epilepticus in Children in India’ was organized. The invited experts included Pediatricians, Pediatric neurologists, Neurologists, Epileptologists, and Pediatric intensive care specialists from India, with experience in the relevant field. Experts had previously been divided into focus groups and had interacted on telephone and e-mail regarding their group recommendations, and developed consensus on the topic. During the meeting, each group presented their recommendations, which were deliberated upon by the house and a consensus was reached on various issues; the document was finalized after incorporating suggestions of experts on the draft document.ObjectiveTo provide consensus guidelines on evaluation and management of convulsive status epilepticus in children in India (excluding neonatal and super-refractory status epilepticus).RecommendationsEach institution should use a pre-determined protocol for management of status epilepticus; pre-hospital management and early stabilization is the key to a satisfactory outcome of status epilepticus. Pharmacotherapy should not be delayed for any investigations; the initial management should consist of a parenteral benzodiazepine by any route feasible. Subsequent management has been detailed. The group also felt the need for more epidemiological research on status epilepticus from India, and identified certain research areas for the purpose.

Subacute sclerosing panencephalitis presenting as acute cerebellar ataxia and brain stem hyperintensities

BACKGROUND Subacute sclerosing panencephalitis is a devastating neurodegenerative disease with a characteristic clinical course. Atypical presentations may be seen in 10% of the cases. AIMS To describe the atypical clinical and radiological features of SSPE in a child form endemic country. METHODS A 5-year-old boy presented with acute-onset cerebellar ataxia without associated encephalopathy, focal motor deficits, seizures or cognitive decline. He had varicella-like illness with vesicular, itchy truncal rash erupting one month prior to the onset of these symptoms. He underwent detailed neurological assessment, relevant laboratory and radiological investigations. RESULTS Neuroimaging revealed peculiar brain stem lesions involving the pons and cerebellum suggestive of demyelination. With a presumptive diagnosis of clinically isolated syndrome of demyelination, he was administered pulse methylprednisolone (30 mg/kg/day for 5 days). Four weeks later he developed myoclonic jerks. Electroencephalogram showed characteristic periodic complexes time-locked with myoclonus. CSF and serum anti-measles antibody titres were elevated (1:625). CONCLUSION Our report highlights that subacute sclerosing panencephalitis can present atypically as isolated acute cerebellar ataxia and peculiar involvement of longitudinal and sparing of transverse pontine fibres. The predominant brainstem abnormalities in the clinical setting may mimick acute demyelinating syndrome. Hence, it is important to recognize these features of subacute sclerosing panencephalitis in children, especially in the endemic countries.

Intractable Vomiting Antecedent to Optic Neuritis An Early Clinical Clue to Neuromyelitis Optica

Neuromyelitis optica is a demyelinating disorder of the central nervous system that primarily affects the optic nerves and spinal cord. Interestingly, we observed intractable vomiting antecedent to optic neuritis as an early presenting feature of neuromyelitis optica. A 30-month-old girl presented with irritability and recurrent vomiting for 4 weeks. The vomiting was profuse, nonprojectile, and required multiple emergency room visits. She was extensively evaluated for gastrointestinal causes and was referred to us as no etiology was established. During the hospital stay, she developed acute bilateral painless vision loss over 2 days. Fundus revealed bilateral papillitis. Examination showed irritability, bilateral vision loss, and bipyramidal signs. T2-weighted magnetic resonance imaging of brain and spine showed hyperintensities in the dorsal pons, dorsal medulla including area postrema, and the entire spinal cord more marked in cervical and upper thoracic region (Figure 1). Serum IgG antibody titers against aquaporin-4 was high (69.8 U/ml, normal 0.00-5.00 U/ml). A diagnosis of neuromyelitis optica was made. The child was treated with intravenous methylprednisolone, and her vision improved along with resolution of vomiting and irritability within 10 days. At the subsequent 18-month follow-up, she had 3 distinct relapses of longitudinal extensive transverse myelitis and treated with corticosteroids and immunomodulators. The case deserves attention for a variety of reasons. First, neuromyelitis optica generally presents with optic neuritis or myelitis, however the initial presentation in the index case was intractable vomiting antecedent to vision impairment. Similar observation has been reported previously. It can arguably be attributed to the primary illness in view of temporal course and prompt response to immunotherapy. Second, it highlights the possibility of area postrema, the aquaporin-4 rich chemosensitive vomiting center, being the first target site for attack in neuromyelitis optica. Area postrema being a circumventricular organ lacks the blood brain barrier and is therefore vulnerable to immunologic damage and also serves as a portal for entry of

Endosulfan Poisoning Resulting from Skin Exposure

Sir, In the letter to the editor by Kamate M et al., [1] important aspects of neurotoxicity of endosulfan have been highlighted. We wish to share our experience in handling a child with endosulfan poisoning resulting from skin exposure. We also want to add a few specific points in the management. A 2-y-old girl presented to the emergency with history of continuous generalized tonic clonic seizure for the past 1 h. There was a history of endosulfan application on head 2 h prior to the symptoms. The mother had applied endosulfan to remove head lice. There was no other significant history or any significant systemic findings. The seizure was immediately aborted by intravenous diazepam and child was loaded with intravenous phenytoin. The child’s head was shaved and surface decontamination was done with soap and water. The child persisted to be irritable for the next 12 h but there was no recurrence of seizures in the hospital. Her hemoglobin was 8.6 g/dL, and the total leukocyte count was 10,600/mm. Her serum electrolytes, blood gases, liver and renal functions were normal. She was asymptomatic and discharged on day 3 of presentation. Parents were counseled regarding the safe handling of endosulfan and other pesticides at home. Endosulfan and other organochlorines are central nervous system stimulants. They are thought to exert their toxic effects through inhibition of γ amino butyric acid (GABA) receptors. Toxicity commonly manifests as altered sensorium (81%), generalised seizures (75%) including status epilepticus (33%) [2]. Control of seizures is an important step in management of this toxicity. There are no trials investigating an optimal anti-convulsant or treatment algorithm for drug or toxin induced seizures. In general, benzodiazepines followed by barbiturates are the first and second-line therapies for drug or toxin induced seizures unless a specific antidote is available [3, 4]. Benzodiazepines and barbiturates are preferred over phenytoin because both these anticonvulsants are agonists at the GABA-A receptors, which facilitate chloride influx through the chloride ionophore, enhancing GABA inhibition [5]. Although phenytoin is the second line agent indicated in the treatment of most causes of status epilepticus, it is not as useful in the management of drug or toxin induced seizures. Moreover its use can potentially enhance cardiac toxicity of certain toxins. There is general lack of awareness to this fact, which is evident by the emergency room use of phenytoin in our patient and the one reported by authors. While using benzodiazapines and/or barbiturates it is important to watch for respiratory depression and hemodynamic status. If facilities for respiratory or cardiovascular support are not readily available then alternative antiepileptics like valproate or levetiracetam may be safer options.

Proximal Myopathy A Rare Presentation of Celiac Disease

Celiac disease presenting as proximal myopathy is rarely seen, particularly in children. We report a 5-year-old girl who presented with bilateral lower limb weakness and on examination had proximal myopathy. She also had florid rickets and short stature. On investigation, the underlying etiology turned out to be celiac disease. Proximal myopathy with celiac disease can be secondary to the disease per se or due to associated osteopenia and rickets.

Duchenne Muscular Dystrophy: A Practice Update

Duchenne Muscular Dystrophy (DMD) is an X-linked recessive disorder caused by a deficient or defective synthesis of dystrophin protein. DMD is the most common form of muscular dystrophy with an incidence of about 1 in 5000 live boys. Though primarily resulting in progressive muscle weakness, it affects various other organs as well. Heart, brain and smooth muscles are commonly involved, because of expression of dystrophin in these organs. The management of DMD requires a multidisciplinary liaison, anticipatory management and prevention of the complications. Consensus based international recommendation for management of DMD have been published in the year 2010, recognizing DMD as a multi-systemic and progressive disease. The proper management of a boy with DMD can improve ambulation, independence, quality of life and delay disease – related complications. A lot can be done to comfort affected children and their care givers even in a resource limited setting. This review discusses these options and also the current understanding of the disease.