Hemophagocytic lymphohistiocytosis with a leukemoid reaction in an infant with scrub typhus.

A two-month-old male infant presented with a clinical picture suggestive of fever without focus. Treatment was initiated with broad spectrum intravenous antibiotics. The infant subsequently developed septic shock, hepatosplenomegaly and tachypnoea with oxygen dependency. There was laboratory evidence of anemia, thrombocytopenia and a leukemoid reaction. Infection induced hemophagocytic lymphohistiocytosis with a leukemoid reaction was suspected because of fever, splenomegaly and bicytopenia in conjunction with elevated serum triglycerides and ferritin. Empiric therapy with doxycycline caused a rapid resolution of the fever, and the diagnosis of scrub typhus was confirmed by a positive scrub IgM ELISA. HLH with a leukemoid reaction secondary to scrub typhus has not previously been reported in early infancy.

A rare primary immunodeficiency.

A 9-year-old girl presented with failure to thrive, chronic mucopurulent nasal discharge, recurrent skin pustules and recurrent episodes of purulent ear discharge since 2 years of age. She had coarse facial features with extensive eczema, multiple pyoderma scars, florid dental caries, retained primary dentition, hypermobile joints and a woody induration of the vulva. Autosomal dominant hyper-IgE syndrome was suspected and confirmed by very high serum IgE levels. Vulval biopsy revealed a premalignant condition. STAT 3 mutation, which is usually responsible for this condition, was not found in our case, indicating an as yet unidentified mutation. The child also had unusual features like the total absence of clinical and radiological features of pneumonia. The premalignant change in the vulva was also unusual since vulval carcinoma has not been reported so far in children with this disorder. This child will require a close follow-up to look for malignant transformation.

Encephalopathy in an infant with infantile spasms: possible role of valproate toxicity.

An infant presented with global developmental delay and infantile spasms. EEG was suggestive of hypsarrhythmia. She was started on sodium valproate, clonazepam and adrenocorticotropic hormone injection. After an initial improvement the child developed vomiting, altered sensorium and increase in frequency of seizures suggestive of encephalopathy. Valproate-induced hyperammonaemia or hepatic encephalopathy was considered and the drug was withheld following which there was a dramatic improvement. Paradoxically, the liver function tests and serum ammonia were normal. However, a complete reversal of encephalopathy, on withdrawal of the drug, strongly suggested an adverse drug reaction (ADR) due to valproic acid. Marginal elevation of serum valproic acid prompted us to use the Naranjo ADR probability score to confirm the diagnosis. This case highlights the fact that valproate toxicity can manifest with normal liver function and serum ammonia levels. This is the youngest reported case with this rare form of valproate-induced encephalopathy.

Massive consolidation: a rare manifestation of paediatric Scrub typhus.

Despite resurgence in the number of Scrub typhus cases, it still poses a diagnostic challenge as there is no prototype presentation. We report a case of a child with Scrub typhus who developed a massive consolidation. Despite such an extensive consolidation, respiratory symptoms such as cough and breathlessness were inconspicuous thereby posing a diagnostic dilemma. Upon serological confirmation, doxycycline therapy was initiated with a rapid and complete resolution of the pneumonia, both clinically and radiologically. The case is being reported to highlight this unusual presentation of Scrub typhus in children.

Myristicin and phenytoin toxicity in an infant.

A developmentally normal infant presented with repeated episodes of afebrile status epilepticus following nutmeg ingestion. He had developed two episodes of afebrile status epilepticus and had received different treatments earlier, but the details of treatment were not available. On admission, he redeveloped convulsions and loading doses of phenytoin, phenobarbitone and midazolam were administered. However, seizures persisted and extrapyramidal movements, nystagmus and visual dysfunction were noted. Iatrogenic phenytoin toxicity was considered and confirmed by drug levels. His symptoms completely disappeared after discontinuation of phenytoin therapy. The initial seizures were attributed to myristicin, an active component of nutmeg, because of the temporal association. However, the subsequent seizures were due to phenytoin toxicity caused by administration of multiple loading doses. This case highlights that nutmeg, a spice, can cause serious toxic effects like status epilepticus. Furthermore, treatment of status epilepticus with phenytoin can cause iatrogenic seizures due to its narrow therapeutic range.