Amit Kumar Satapathy

Surreptitious insulin overdosing in adolescents with type 1 diabetes

BackgroundHypoglycemia in children and adolescents with type 1 diabetes has diverse etiologies.Case CharacteristicsWe report recurrent hypoglycemia in three children with type 1 diabetes because of insulin overdose.InterventionHospitalization and counseling by treating team and psychologist helped in resolving the recurrent hypoglycemia.OutcomeImprovement in glycemic control was achieved.MessageAdolescents with type 1 diabetes may take extra insulin to consume more carbohydrates, or to seek attention. Parents should share the responsibility of care of adolescents during transition phase for better glycemic control.

Distal renal tubular acidosis associated with celiac disease and thyroiditis

BackgroundAssociation of distal renal tubular acidosis (RTA) with autoimmune diseases is extremely rare in children.Case Characteristics12-year-old girl with distal RTA. Despite resolution of acidosis on bicarbonate, she continued to have poor growth and delayed puberty. Investigations revealed autoimmune thyroiditis and celiac disease.OutcomeLevothyroxine and gluten-free diet were initiated. Child gained height and weight and had onset of puberty after gluten withdrawal.MessagesDistal RTA in children may rarely be of autoimmune etiology.

Caffey's Disease: Two Cases Presenting with Unexplained Fever.

To the Editor: Caffey’s disease, is a self limiting disorder of bone in infancy is characterized by acute inflammation of the soft tissue and localized periosteal thickening [1, 2]. Here we report two cases of Caffey’s disease with different presentation and variable response to anti-inflammatory therapy. A 6-mo-old girl presented with fever and swelling of both forearms for about 2 mo duration. On examination, there was tender bony swelling of both the forearms along with uniform swelling in the region of lower jaw, unnoticed by the mother. Investigations revealed anaemia (Hb-8.3 g/dl), leucocytosis (16,700/cumm) with thrombocytosis (11.14 × 10/μL). Skeletal survey showed symmetrical multi-lamellated periosteal reaction involving the mandible, bilateral radius and ulna, lateral end of the clavicles and multiple ribs with associated soft tissue swelling suggestive of Caffey’s disease (Figs. 1 and 2). A 2-mo-old girl presentedwith feverwithout any localization. Examination was non-contributory except for pallor. Laboratory investigation revealed microcytic hypochromic anemia (Hb8.3 g/dl), leucocytosis (29,000/cumm) and thrombocytosis (14.8 × 10/μL). ESR and CRPwere elevated too. Bonemarrow aspiration and biopsy was normal. Skeletal survey showed increase periosteal thickening of ribs as well as the mandible suggestive of Caffey’s diseases (Figs. 3 and 4) which were confirmed with CECT chest and whole body bone scan. Molecular studies for common mutation(c.3040 C>T) in the COL1A1 gene for Caffey’s disease was negative in both the children. Both children were initially treated with oral ibuprofen (40 mg/kg/d) for 2 wk, subsequently tapered and stopped over next 6 wk, Clinical as well as hematological and radiological features resolved

Spondylometaphyseal Dysplasia Corner Fracture (Sutcliffe) Type

Spondylometaphyseal dysplasia corner fracture type (Sutcliffe) is an uncommon form of skeletal dysplasia which has some unique imaging features. The differential diagnoses include other forms of spondylometaphyseal dysplasias and non-accidental injury. The case report describes a child with typical imaging findings of this clinical entity with a brief discussion of the diagnostic clue and differential diagnoses.

Addisonian Crisis Due to Antitubercular Therapy

To the Editor : Chronic adrenal insufficiency is characterized by deficient secretion of glucocorticoids, and often mineralocorticoids by the adrenal glands [1]. Here we are describing a 12-y-old girl who presented with adrenal insufficiency due to adrenal tuberculosis and difficulties encountered during her management. The girl presented to the emergency (ER) with hypotension and history of generalized hyperpigmentation for last 4 mo. She was noted to have hyponatremia and hyperkalemia, and serum cortisol was found to be low. Adrenal insufficiency was diagnosed and she was started on hydrocortisone (10 mg/m) and fluodrocortisone (0.1 mg/d), to which good clinical and biochemical response was noted. She had a history of contact with tuberculosis. Montoux test was positive and CECT abdomen showed enlarged and necrotic adrenal glands, suggestive of adrenal tuberculosis. The child was started on antitubercular treatment (ATT). After starting ATT, the child started having weakness, lethargy and pigmentation for which she visited outpatient department repeatedly. Her BP and electrolytes were within normal limits. Steroid dose was hiked up to 30 mg/m but the response was poor. She again presented to the ER with extreme weakness and was found to have hypotension. She was admitted to investigate the cause for her symptoms; her chest radiograph, ECG and echocardiography were normal. Serum ACTH level was found to be increased (359 pg/ml). After excluding all other causes for symptoms, a diagnosis of rifampacin induced metabolism of steroids leading to corticosteroid insufficiency was made. We started her on dexamethaosne at a dose equivalent to 35 mg/m of hydrocortisone, as it is a more potent and long-acting steroid. The child responded over the next few days; was continued on dexamethoasone for the entire duration of completion of ATT and afterwards was put on hydrocortisone (12 mg/m) and continued to do well. The standard management of Addison’s disease is replacement of corticosteroids and mineralocorticoids [2]. Precipitation of adrenal crisis due to rifampacin induced metabolism is a rare phenomenon and only a few case reports are available [3, 4]. In conclusion, good clinical care and frequent biochemical monitoring are required during treatment of tuberculosis in Addison’s disease to adjust steroid dosages for prevention of adrenal crisis.

Clinical and molecular characterization of children with neonatal diabetes mellitus at a tertiary care center in northern India

ObjectiveTo study the genetic mutations and clinical profile in children with neonatal diabetes mellitusMethodsGenetic evaluation, clinical management and follow-up of infants with neonatal diabetesResultsEleven infants were studied of which eight had permanent neonatal diabetes. Median age at presentation was 8 weeks and mean (SD) birth weight was 2.4 (0.5) kg. Pathogenic genetic mutations were identified in 7 (63.6%) children; 3 infants with mutations in KCNJ11 gene and 1 in ABCC8 were switched to oral sulfonylureas; 2 infants had mutations in INS and 1 in ZFP57.ConclusionNeonatal diabetes mellitus is a heterogeneous disorder. Identification of genetic cause guides clinical management.

Primary angiitis of the central nervous system in a 7-month-old infant.

To the Editor-in-Chief: Primary central nervous system (CNS) vasculitis of childhood is a rare and serious but potentially reversible inflammatory brain disease. Effective treatment can be initiated as soon as possible with early recognition of this rare condition. Here, we are reporting primary CNS vasculitis in an infant, who presented with seizure. A 7-month-old previously healthy girl child presented with left focal seizure, which lasted for 10 min and self-aborted. There was no history of trauma, fever, rash, vomiting, ear discharge, and loss of consciousness or similar illness in the past or in other family members. At the time of admission, the child was active and alert with left upper motor neuron (UMN)-type hemiparesis and left UMN facial palsy. The rest of the systemic examination was essentially normal. On laboratory investigations, the child had normocytic normochromic anemia (Hb—11.2 g/dL) and leukocytosis (17,000/uL), with normal platelet count (3.67 lac/uL). Serum electrolyte was normal. Cerebrospinal fluid (CSF) examination revealed normal opening pressure with pleocytosis (cell counts—26/mm) and mild elevated protein (76 mg/dL). Brain MRI with contrast enhancement was suggesting of CNS vasculitis (Fig. 1a, b). In view of possibility of vasculitis, magnetic resonance angiography (MRA) was done which showed vessel stenosis (Fig. 2). Further work-up for vasculitis was carried out, which revealed an erythrocyte sedimentation rate (ESR) of 50 mm/h with elevated C-reactive protein (CRP—11.2 mg/L). Antinuclear antibody (ANA), rheumatoid factor (RF), and serum C3 and C4 were within normal limit. ANCA-PR3 (54.23 RU/mL) was elevated (normal < 20). Lipoprotein (a), homocysteine, protein C and S, and antithrombin III levels were normal too. No mutation was identified in factor V Leiden. Echocardiography did not reveal any structural heart disease. Tandem mass spectrometry and urinary organic acid profile were normal. On the basis of elevated ANCA, CRP, ESR, and typical angiographic findings with isolated central nervous system involvement, diagnosis of primary CNS vasculitis was made. The child was started on phenytoin (5 mg/kg/day) following which there was no recurrence of seizure along with prednisolone (2 mg/kg/day) and aspirin (5 mg/kg/ day). Focal neurological deficits were improved after 2 weeks of presentation. Dose of prednisolone was tapered after 6 weeks of full dose and subsequently stopped. No relapse neither seizure recurrence was recorded in the next 12 months, and the child was developmentally normal. CNS vasculitis is an inflammatory brain disease, which can present with devastating neurological deficits. It can be primary or secondary. Primary CNS angiitis is an idiopathic vasculitis usually involving large/medium or small vessels presenting with neurological symptoms. Large–medium-vessel vasculitis usually presents with headache and acute hemiparesis with sensory deficit. Subjects are usually diagnosed with help of conventional angiography [1]. Small-vessel vasculitis usually presents with intractable seizure, ataxia, and cognitive decline with behavioral abnormality. Angiographic finding in children with small-vessel vasculitis is usually negative and requires brain biopsy for confirmation of the diagnosis [2]. Typical MRA findings are vessel stenosis [3] in * Indar Kumar Sharawat sherawatdrindar@gmail.com

Hyperinsulinemic hypoglycemia of infancy due to novel HADH mutation in two siblings

BackgroundHyperinsulinemia is the commonest cause of persistent hypoglycemia in infancy. Inactivating mutations in the genes ABCC8 and KCNJ11 are the commonest cause. Mutation in the HADH gene, which encodes the short-chain-L-3-hydroxyacyl-CoA dehydrogenase, is a rare cause.Case characteristicsTwo Indian sisters who presented with hyperinsulinemic hypoglycemia of infancy.Observation/InterventionA novel homozygous missense mutation in the HADH gene was identified in both the sisters, while the parents were found to be heterozygous carriers.OutcomeEstablishment of molecular diagnosis, optimization of therapy and counseling of parents regarding risk of recurrence in future pregnancy.MessagesHADH mutations are rare causes of hypoglycemia and can be mitigated with diazoxide and appropriate dietary therapy if identified early.

Mesenchymal Hamartoma of Chest Wall in an Infant: Mimicking Persistent Pneumonia.

Mesenchymal Hamartoma of the chest wall (MHCW) is a very rare benign tumour. They are usually discovered in infancy. Spontaneous regression is known to occur in this benign condition. Management is surgical removal of mass if respiratory compromise is present. Conservative management is preferred modality in asymptomatic children as malignant transformation is not reported. Herein, we present a case of MHCW in a 5 month old infant presenting with acute respiratory distress with history of respiratory problem at 3 months of age. Child was suspected to have persistent pneumonia in view of radiological findings. Childs respiratory distress improved with antibiotics and bronchodilators. Respiratory symptoms in MHCW are due to extrinsic compression of lung parenchyma. Present case had respiratory symptoms with persistent radiological findings leading to suspicion of persistent pneumonia. His respiratory symptoms and exacerbation on follow up was attributed to hyper reactive airway disease and MHCW was managed conservatively. The non-neoplastic nature, characteristic presentation, histopathology, imaging modality and management options of MHCW are discussed.