Wilson disease: early screening for better living

Autosomal recessive diseases are more common among consanguineous marriages noted particularly in southern parts of India. There is a gradual increase in the genome wide homogenecity with the increasing levels of consanguinity. Here we are reporting a case series of such an autosomal recessive condition, namely Wilson Disease (WD), where three children were affected with the disease, who were born out of consanguineous marriages. The first case presented with neuropsychiatric manifestations, the second case and third cases were diagnosed through screening of family members leading to earlier identification of the disease. In these cases consanguinity has been emphasised as the major predisposing factor leading to their manifestations. This case series highlights the importance of screening the other family members of the index case. Conditions such as Wilson disease have an excellent prognosis if pharmacotherapy is initiated appropriately.

Atypical arthritis in a toddler: beware, save the heart

Acute rheumatic fever still poses a dreadful threat to pediatric morbidity and mortality. A 2 year old toddler presented to us with non migratory polyarticular joint pain and swelling. General physical and systemic examination was normal. Local examination revealed swelling and tenderness of multiple small and large joints. Further evaluation fulfilled Modified Jones criteria and she was diagnosed to have acute rheumatic fever. Other close differentials were simultaneously ruled out. Child was started on naproxen because of aspirin toxicity. There was significant response for therapy and complete resolution of joint involvement was noted on follow up. We report this case to emphasize the fact that rheumatic fever might have bizarre clinical presentation and may also affect infants and toddlers deviating the typical age of onset. There is a need for earliest possible initiation of adequate management and follow up to prevent permanent cardiac complications. This warrants high index of suspicion even in uncommon age group.

Langerhans cell histiocytosis presenting as isolated central diabetes insipidus in a 2-year-old child: a rare manifestation of rare disease

Central diabetes insipidus, though uncommon in children, has varied causes, the commonest ones being genetic mutations, infiltrative disorders, infections. Isolated central diabetes insipidus is not one of the often encountered conditions in the pediatric practice. Here we report a case of 2 ' years old female child who presented to us following history of polyuria for 2 months, who was confirmed to have central diabetes insipidus which was later evaluated to be secondary to Langerhans cell histiocytosis. Magnetic resonance imaging (MRI) and histopathological studies further helped in confirmation of the diagnosis. Langerhans cell histiocytosis is a rare, multifarious, and underdiagnosed hematologic disease in which isolated diabetes insipidus can be the sole presenting feature before other manifestations. Hence, this diagnosis could strongly be considered in the work up of central diabetes insipidus in children.

Bilateral suppurative parotitis in a neonate: a case report

Acute suppurative parotitis is a very rare ailment to be encountered in the neonatal period. Here, we report a 13-day old hemodynamically stable neonate, who presented to us with bilateral tender, erythematous parotid swelling and purulent discharge exuding from stensen's duct. He was exclusively breast fed and had no other risk factors. Provisional diagnosis of acute suppurative parotitis was made with clinical examination. On investigating, there was neutrophilic leukocytosis, elevated acute phase reactants, ultrasonogram showed hypoechoic areas and a heavy growth of Staphylococcus aureus was isolated on pus culture. Baby underwent incision and drainage on the day of admission and was started on appropriate parenteral antibiotics along with supportive management. There was a significant clinical response over next 24 hours. He was doing well throughout the hospital stay and antibiotic course was completed based on culture sensitivity pattern. He neither had any immediate complications during hospital stay nor developed any late complications on follow up. Prognosis of the condition is excellent with adequate timely management. Authors would like to report this case for its rarity and to emphasize on fact that though the condition is uncommon, acute neonatal parotitis should be included in the differentials of any unilateral or bilateral neonatal parotid swelling, as early diagnosis and prompt management of this entity is mandated for a favorable outcome and to limit complications drastically.

How safe are our children in our own homes? accidental ingestion in children: a 6 year retrospective study from a tertiary care centre

Background: According to the World Health statistics, in 2016 more than 100000 deaths were caused due to unintentional poisonings. Children are vulnerable due to their smaller body surface area, an inherent behaviour of negation, curiosity in exploring their surroundings, their initial phallic stage where they tend to put any objects they come across into their mouth.Methods: This study is a hospital based retrospective observational study where the records of all the children admitted due to poisoning, accidental or intentional from June 2012 to November 2018 were reviewed. All the children admitted due to food poisoning and idiosyncratic drug reactions were excluded from the study.Results: A total of 203 cases of accidental ingestion were admitted during the study period, of which the majority of the patients were male children. The age group varied from 5 months to 14 years. Majority of the accidental ingestions were due to kerosene (108), followed by insecticides (25) and cleaning agents (20).Conclusions: Poisoning in young children is unintentional and accidental; hence the introduction of safe child resistant containers should be encouraged in storing harmful chemicals. Knowledge about the chemicals, awareness about their hazardous effects and education of the care givers about safe storage would be the first step in the prevention of accidental ingestion. Establishment of a reporting system from all the health care centres and establishment of poison information system at all the levels is the need of the hour.