Infantile osteopetrosis with delayed development, organomegaly and wandering eyes: case report.

Osteopetrosis encompasses rare inherited metabolic bone disorders with defect in the osteoclast activity. Severe forms of presentation such as malignant infantile osteopetrosis are seen in infants and milder forms in older children. The clinical presentation includes failure to thrive, severe pallor, optic atrophy and hepatosplenomegaly. The disorder is characterised by dense bone on radiography, hence the name marble bone disease. A 10-month-old boy who presented with developmental delay, failure to thrive, nystagmus (which the mother described as wandering eye movements), splenomegaly of 16 cm and hepatomegaly of 8 cm. Investigations demonstrated severe anaemia (5.7 g/dL) and thrombocytopenia (34 x 109/L). Radiological signs which help in the diagnosis include diffuse sclerosis, bone within bone appearance, sandwich vertebrae and Erlenmeyer flask deformity. Plain radiography is an easily available and cost effective tool which can aid in the diagnosis of osteopetrosis.

Macrophage activation syndrome in children with Kawasaki disease: an experience from a tertiary care hospital in northwest India.

OBJECTIVES: To carry out a review of clinical characteristics, laboratory profiles, management and outcomes of patients with Kawasaki disease (KD) and macrophage activation syndrome (MAS). METHODS: Medical records of patients treated for KD and MAS between January 1994 and December 2019 were reviewed. Patient demographics, clinical signs, laboratory values, coronary artery abnormalities, treatments and outcomes of patients with KD and MAS were recorded. We also performed a review published studies on the subject. RESULTS: Of the 950 cases with KD, 12 (1.3%; 10 boys, 2 girls) were diagnosed with MAS. The median age at diagnosis was 4 years (range 9 months-7.5 years). The median interval between onset of fever and diagnosis of KD was 11 days (range 6-30). Thrombocytopenia was seen in 11 patients. The median pro-brain natriuretic peptide value was 2101 pg/ml (range 164-75 911). Coronary artery abnormalities were seen in 5 (41.7%) patients; 2 had dilatation of the left main coronary artery (LMCA), 1 had dilatation of both the LMCA and right coronary artery (RCA), 1 had dilatation of the RCA and 1 had bright coronary arteries. All patients received IVIG as first-line therapy for KD. MAS was treated with i.v. methylprednisolone pulses followed by tapering doses of oral prednisolone. Additional therapy included i.v. infliximab (n = 4), second-dose IVIG (n = 1) and oral ciclosporin (n = 1). CONCLUSION: MAS is an unusual and underrecognized complication of KD. In our cohort of 950 patients with KD, 1.3% had developed MAS. KD with MAS is associated with an increased propensity towards development of coronary artery abnormalities.

Kawasaki disease: characteristics, diagnosis, and unusual presentations.

Introduction: Kawasaki disease (KD) is one of the commonest pediatric vasculitides and is associated with a significant risk of development of coronary artery abnormalities if left untreated. Areas covered: In this review, we have highlighted the incomplete and unusual presentations of KD and also emphasize the controversies pertaining to 2D echocardiography in KD. A PubMed search was performed regarding diagnosis and unusual presentations of KD. Expert opinion: Diagnosis of KD is essentially clinical and based on recognition of typical clinical features that may appear sequentially and all signs and symptoms may not be present at one point of time. There is no confirmatory laboratory test for diagnosis of this condition. Further complicating the picture is the fact that incomplete and atypical forms KD may be seen in up to 50% patients. Although 2D echocardiography continues to be the preferred imaging modality for cardiac assessment in patients with KD, it has its limitations.

Little Children, Bigger Problems: Anti-N-Methyl D-Aspartate Receptor Encephalitis!

Anti N-methyl D-aspartate receptor (NMDAR) antibody positive autoimmune encephalitis is a well-described entity both in adults as well as in children. The authors report an 18-mo-old boy who presented with seizures, movement disorder, cognitive impairment, and behavioral disturbances. Anti-NMDAR encephalitis was confirmed by detection of NMDAR antibodies in the cerebrospinal fluid. The patient was administered pulse corticosteroids and intravenous immunoglobulin followed by further immunomodulatory therapy. No tumor was detected on screening. The child remained unresponsive to treatment. The authors wish to highlight the occurrence of anti-NMDAR encephalitis in young toddlers and the poor response to therapy often seen in very young children.

Vitamin d levels in children with bronchial asthma.

INTRODUCTION: Bronchial Asthma is a common chronic inflammatory disorder of the airways in childhood. Vitamin-D, required for bone mineralization, is also a potent immune system regulator having a potential role in various allergic diseases. This study was undertaken to determine the difference in serum levels of Vitamin-D in asthmatic children and to determine the association between vitamin-D and asthma in children. MATERIALS AND METHODS: This cross-sectional study included 88 (44 asthmatic children and 44 healthy controls) children aged between 5 and 13 y. Serum 25-hydroxy vitamin-D levels were determined and compared between the two groups. The association between vitamin-D levels and lung function was studied in the asthmatic children. RESULTS: Serum vitamin-D level was significantly lower in asthmatic children than in control group and in the asthmatic group, vitamin-D levels had a significant positive correlation with FEV1% and FEV1/FVC%. CONCLUSION: Vitamin-D deficiency is highly prevalent in asthmatic children and is associated with airway limitation.