Early Markers of Atherosclerosis in Children and Adolescents with Type 1 Diabetes Mellitus.

OBJECTIVES: To detect early atherosclerosis changes using flow-mediated dilation (FMD) of the brachial artery, carotid intima-media thickness (CIMT), inflammatory markers (hs-CRP, IL-6), and endothelial markers (sICAM and sVCAM). METHODS: The authors recruited 4 to 18-y-old children with type 1 diabetes mellitus (T1DM) and age- and sex-matched normal children, excluding those with familial hypercholesterolemia, syndromic disorders, and cardiovascular disease. CIMT and FMD were measured in both the groups. Biomarkers hs-CRP, IL-6, sICAM, and sVCAM, were analyzed in the T1DM group. RESULTS: Forty T1DM children and 40 controls with 27 (67.5%) girls were enrolled in each group. The mean age was 9.68 y. The T1DM group had 4 (10%) obese and 4 (10%) overweight children. Among cases, 9 (22.5%) had diabetes for > 5 y, 24 (60%) required daily insulin between 0.8 and 1.2 IU/kg/d and 26 (65%) had HbA1c > 10 g/dL. The CIMT values were significantly higher in cases (0.69 mm) than in controls (0.59 mm); 29 (72.5%) cases had abnormal combined CIMT values. FMD was lesser in cases than in controls but not significant. The median values of hs-CRP, IL-6, sICAM, sVCAM were 0.81 mg/L, 6.27 pg/mL, 46.33 ng/mL and 668.81 ng/mL, respectively. A significant correlation of IL-6 with CIMT (r = 0.543, p = < 0.001) and sICAM with FMD (r = -0.397, p = 0.011) was observed. VCAM was low in the obese and overweight children. CONCLUSION: Children with type 1 diabetes had higher CIMT than normal children, whereas FMD did not differ. The association between elevated inflammatory markers with high CIMT and low FMD indicates that inflammation plays an essential role in endothelial dysfunction.

A rare cause of stroke in young children: minor head trauma associated with mineralising lenticulostriate angiopathy in three patients.

Acute basal ganglia infarct following minor head trauma in association with mineralisation of lenticulostriate arteries is an increasingly recognised entity in childhood stroke. Three cases with a classical history and phenotypical features of mineralising angiopathy are described. Case 1 was a 2-year-old girl who presented with acute onset hemiparesis with a same-side upper motor neuron (UMN)-type facial palsy following minor head trauma. Case 2 was a 14-month-old boy who presented with a left side hemiparesis and a left UMN-type facial nerve palsy following a minor fall. Case 3 was an 8-month-old boy who, following a fall from his cot, had a sudden-onset hemiparesis on the right side and deviation of the angle of the mouth to the left. In brain computed tomography, all three cases demonstrated characteristic basal ganglia calcification of the mineralising angiopathy. Magnetic resonance imaging of the brain demonstrated features supportive of acute infarcts in the lentiform nucleus, caudate nucleus and putamen. Two of the patients had iron deficiency anaemia with haemoglobin of 7.0 g/dL and 7.8 g/dL, respectively. On follow-up, Case 1 had mild residual weakness and the other two made a complete recovery. None of the patients had a recurrence of stroke. Basal ganglia stroke with mineralising angiopathy should be considered in toddlers presenting with sudden-onset focal neurological deficits preceded by minor head trauma.Abbreviations: ADC: apparent diffusion coefficient; CT: computed tomography; DWI: diffusion-weighted imaging; Hb: haemoglobin; IDA: iron deficiency anaemia; MRI: magnetic resonance imaging; SLV: sonographic lenticulostriate vasculopathy; SWI: susceptibility weighted imaging; UMN: upper motor neuron.

Visceral Toxocariasis Presenting as Systemic-Onset Juvenile Idiopathic Arthritis.

An 8-year-old boy presented with intermittent fever, abdominal pain and joint pain for 1 month. On examination, he had pallor, generalized lymphadenopathy, hepatomegaly and arthritis. Investigations revealed anemia, leucocytosis, hypereosinophilia and hypergammaglobulinemia, with an elevation of inflammatory markers. Initially, suspected as systemic-onset juvenile idiopathic arthritis, and on further probing, the child had geophagy and contact with dogs in the household. Ultrasonography of the abdomen showed multiple cystic lesions, and serology for Toxocara canis was positive; hence the child was diagnosed with visceral toxocariasis and managed with albendazole therapy.

Haematohidrosis in a 12-year-old boy: blood, sweat and tears.

A 12-year-old boy presented with a 1-year history of episodes of spontaneous bleeding from multiple sites lasting for a few minutes. His medical history was unremarkable and all the episodes of bleeding began after he was separated from his aunt to whom he was very much attached. She had moved out of their home following her marriage. All haematological investigations were normal. He was diagnosed with haematohidrosis secondary to adjustment disorder, and behavioural therapy was advised and propranolol prescribed. At present he is asymptomatic and on regular follow-up.Explanations of terms used in the text: Adjustment disorder: maladaptive response to a psychosocial stressor in an individual with significant difficulty coping with a stressful psychosocial event; anxiolytics: medication that reduces anxiety; chromohydrosis: secretion of coloured sweat; haematochezia: passage of fresh blood through the anus, usually in or with stools; haematohidrosis: sweating blood; oto-erythrosis: spontaneous bleeding from the ear; otorrhagia: haemorrhage from the ear; vicarious menstruation: cyclical bleeding outside the uterine cavity during the menstrual cycle.

Raised blood glucose due to heterozygous glucokinase gene mutation (GCK-MODY) diagnosed for the first time in pregnancy: The dilemmas and successful management - Case report and review of literature.

Glucokinase mutation (GCK-MODY) is frequently misdiagnosed as either type I or type II diabetes mellitus, especially if presented for the first time during pregnancy. Generally GCK-MODY affects 1-2% of individuals with a diagnosis of diabetes. The defect in the glucose sensing mechanism in GCK-MODY results in a higher set point for maintenance of glucose homeostasis. Treatment is not recommended outside the pregnancy; however, in pregnancy, fetal abdominal circumference helps to decide about the likelihood of the fetus having inherited the condition and therefore whether insulin is required in pregnancy. We present a case in which GCK-MODY was diagnosed for the first time after pregnancy; the subsequent pregnancy was uneventful. Genetic testing is mandatory to establish the diagnosis. Here the implications of MODY and its subtypes, along with the pattern of inheritance and management aspects are discussed.

Efficacy and Safety of Combined Oral Chelation with Deferiprone and Deferasirox on Iron Overload in Transfusion Dependent Children with Thalassemia - A Prospective Observational Study.

OBJECTIVES: To assess the efficacy and safety of dual oral iron chelation therapy (deferiprone and deferasirox) in decreasing iron overload status, using serum ferritin and liver and cardiac MRI as indicators, in transfusion dependent thalassemic children. METHODS: This was a prospective observational study conducted in a tertiary care hospital for a period of one year. Children with thalassemia between 2 and 18 y of age with serum ferritin above 1500 ng/ml were started on oral deferiprone and deferasirox. They were followed up for one year. Serum ferritin and MRI quantification of liver and cardiac iron concentration was done at enrolment and end of 12 mo. They were also monitored monthly for any adverse effects. RESULTS: Twenty one thalassemic children with mean age of 7.8 y (range 4-12 y) and a mean ferritin value of 3129 + 1231.5 ng/ml were enrolled. Mean serum ferritin decreased by 1226.3 ng/ml (p = 0.047, 95% CI =10.2, 1504.3) with 16.8% fall from baseline. The reduction in ferritin correlated significantly with the initial ferritin level (spearman's rho = 0.742, p = 0.001). Mean liver iron concentration and myocardial iron concentration did not change significantly. Red color urine, transient rise in creatinine and liver enzymes were noted during the study period. CONCLUSIONS: Combined oral chelation with deferiprone and deferasirox significantly decreases the serum ferritin level in children with severe iron overload. The drugs were tolerated well without any serious adverse effects.

Severe acute kidney injury owing to rhabdomyolysis and intravascular haemolysis in an 11-year-old child with G6PD deficiency.

Glucose-6-phosphate dehydrogenase (G6PD) deficiency leading to acute intravascular haemolysis and acute kidney injury (AKI) is a known clinical presentation. However, there is a paucity of information regarding the occurrence of rhabdomyolysis and myoglobinuria in G6PD-deficient individuals, especially children. An 11-year-old south Indian Tamil girl presented with severe anaemia and anuric AKI following a short febrile illness. Investigations demonstrated evidence of intravascular haemolysis and rhabdomyolysis, and on histopathology myoglobin deposits (casts) were detected in the renal tubules. She was successfully managed with repeated sessions of haemodialysis and blood transfusions. Follow-up estimation of G6PD levels after 3 months confirmed severe G6PD deficiency (0.003 nkat/g haemoglobin). Although there are anecdotal reports of myoglobinuria in G6PD-deficient individuals, the occurrence of severe anuric AKI in this clinical setting has not been reported. It can be speculated that myoglobinuria (in addition to haemoglobinuria) can contribute towards jeopardising renal function in G6PD deficiency-related acute haemolytic crisis.

Scrub typhus in children at a tertiary hospital in southern India: clinical profile and complications.

OBJECTIVE: To study the clinical profile of and complications in children with scrub typhus. DESIGN: Prospective observational study. SETTING: Tertiary care hospital. METHODS: Children up to 12 years of age who had a fever for more than five days without an identifiable infection were included. All children who were suspected of having rickettsial infections were defined as having scrub typhus if they had a positive Weil-Felix test result (OX-K 1:80 or more) and one or more of the following clinical features (after exclusion of other diagnoses): rash, edema, hepatosplenomegaly, lymphadenopathy, an eschar, and a tick bite or tick exposure. RESULTS: Thirty-five children were diagnosed with scrub typhus between February 2010 and February 2011. The age of the patients ranged from 1.5 to 12 years. Edema, crackles/rhonchi, hepatomegaly and hypotension were encountered in 60%, 23%, 91% and 34% of patients, respectively. An eschar was observed in 11% of the cases. Complications included myocarditis with cardiogenic shock in 34% of the cases and acute kidney injury in 20% of the cases. Anicteric hepatitis and thrombocytopenia were observed in 31% and 61% of cases, respectively. One patient died. CONCLUSIONS: High incidences of myocarditis and acute kidney injury were observed, which indicates that the children were treated at a late stage of the disease. Clinicians should be cognizant that myocarditis and acute kidney injury are serious manifestations of pediatric scrub typhus.

Pseudohypoaldosteronism masquerading as congenital adrenal hyperplasia.

A 15-day- old male infant presented with features suggestive of congenital adrenal hyperplasia (CAH). But on detailed investigation, he had normal 17-OH Progesterone and high aldosterone levels. Infant also had right sided hydronephrosis and associated urinary tract infection. Hence, a diagnosis of secondary pseudohypoaldosteronism was made. There was good response to sodium chloride supplementation and he was thriving well on follow up. While evaluating any infant with suspected CAH, one should consider secondary pseudohypoaldosteronism, especially when risk factors like urinary tract obstruction or UTI coexists.