Nur Rochmah

Persistent hyperinsulinemic hypoglycemic in infant: a case report.

Persistent hyperinsulinemic hypoglycemic in infant is risk factor for impairment during brain development process. Early diagnosis and treatment will result in better outcome. The aim is to report a case of persistent hyperinsulinemic hypoglycaemic infant. Methode is case report. A, 2 days old term infant, was referred due to hypoglicemia. He got generalized seizure and recurrent hypoglicemia. He can drink well. No vomiting observed. The Apgar score was 6-7-8. Birth weight was 4000 gram. He was the third child. Second child had the same history. No history of diabetes mellitus in the family. Physical examination revealed normal limit. Laboratory examination showed Hb 16.8 gram/dl, WBC17.4/cmm; hematocrite 50.1%; platelet 316/cmm; blood glucose 105 gram/dl, potassium 4.6 mmol/l, sodium 139 mmol/l, chloride 106 mmol/l, calsium 9.6 mg/dl, BUN 5.1 mg/dl, creatinin serum 0.82 mg/dl, Direct Bilirubin 0.079 mg/dl, Total bilirubin 0.19 mg/dl, SGOT 16 U/L, SGPT 10 U/L, CRP 11.10 mg/dl. During hypoglycaemia we got the result as follows: growth hormon 2.99 ng/ml (0.06-5), cortisol serum 198 ng/ml (50-250), fasting Insulin 10.30 Uu/ml (2.6-24.9). Head ultrasonography revealed normal. The patient was given IVFD Dextrose 10 0.18% saline (glucose infusion rate 4-5 mg/kg/min), breast milk 8x30-60cc, Ocreotide 5 mcg/kg/day iv, Nifedipin 4x 0.5-2.5mg per oral. Bolus 2cc/kg body weight of D10% if the blood sugar level was low. Hypoglycemic improved after treatment. As conclusion we should be aware of hypoglycemia in infant, it may due to persistent hyperinsulinism hypoglycemia of infant in which careful management is needed. Written informed consent was obtained from each patients parent or guardian for publication of this abstract and any accompanying images. A copy of the written consent is available for review by the Editor of this journal.

Electrocardiography evaluation in type 1 diabetes mellitus, preliminary study.

Cardiovascular complication should be evaluated in patient with T1DM. Ventricular instability (QT abnormalities) in Type 1 Diabetes Melitus (T1DM) is a risk factor for mortality. Prolongation of corrected QT interval (QTc) is accurate and the most sensitive test for the autonomic neuropathy whether QT interval dispersion (QTd) in arrhythmia is a predictor for mortality. This study is to evaluate arrhythmia, prolongation of QTc and QTd in T1DM children. Cross sectional study of children diagnosed T1DM in Soetomo Hospital; Surabaya during April 2013 to April 2014 was performed. The ECG was done in all of the patients. Arrhythmia, QTc and QTd were measured and analyzed with Paired t-test. There were 17 patients joint this study. Age was 8 to 15 years. There were 9 girls and 8 boys who suffered from 1 to 7 years of illness. There were 9/17 arrhythmia patients, 2/17 prolonged QTc patients, 4/17 borderline QTc patients, 1/17 with total AV block. The patient with total AV block was diagnosed DMT1 with ketoasidosis and acute pancreatitis. There was 1 patient without prolonged QTc although suffered from five times of DKA. The mean of QTc was 428.5 (SD 27.67) m.sec and QTd was 29.3 (SD 12.79) m.sec. There was significant differences between present of arrhythmia and QTd (P<0.01, 95% CI -35.01 to -20.85) and QTc (P<0.01, 95% CI -442.43 to -411.85). Arrhythmia and prolonged QTc was present in T1DM children under 10 years of illness. No one with prolonged QTd. Every arrhythmia should be taken into account in QTd to predict the mortality.

Addison’s disease in a child: a case report

Addisons disease is chronic primary adrenal insufficiency, a rare disorder which is characterized by adrenocortical insufficiency. The sign and symptom in Addisons disease is nonspecific. This paper is to report Addison’s disease in a child focusing in diagnostic approach. Method is case report. Girl, 4 years old suffered from general weakness without paresthesia, fatigue, salt craving and hyperpigmentation including skin, lips, gum, buccal mucosa, hard palate and plantar creases. Tanner stage was prepubertal condition. Basal cortisol plasma level in the morning was 94.8 (50-250) µg/mL and 14.5 (25-125) µg/mL in the evening. This patient was performed ACTH stimulation test. The result revealed declining cortisol plasma level before (20.83) and 30’, 120’ after the test (16.53, 5.91, respectively). Free T4 was 17.31 (9-20) pmol/L; TSH 2.48 (0.25-5) uIU/mL. Adrenal ultrasound revealed no classification nor hemorrhage. Primary adrenal insufficiency was established. Tuberculosis is frequently reported in Addison. In our patient the Tuberculin skin test revealed negative. Treatment planned to be given were oral hydrocortisone 15 mg/m2 and oral fludrocortisone. Based on anamnesis, physical examination and laboratory findings, addison disease was established. As conclusion, beware of generalized weakness and hyperpigmentation in a child, it may be the symptom of adrenal insufficiency. Careful diagnosis procedure is very important. Written informed consent was obtained from the patient for publication of this abstract and any accompanying images. A copy of the written consent is available for review by the Editor of this journal.

Relapse in pituitary adenoma after resection

Pituitary adenoma in children is rarely reported. Acromegaly is one of clinical manifestation in GH releasing-pituitary adenoma. Recurrence of clinical manifestation after resection must be evaluated for possibility of pituitary adenoma relapse. N,male,15-yo, came to pediatric endocrinology outpatient clinic with the main complain of acromegaly and decreased of visual field which was getting worse since two weeks before(April11, 2011). He was consulted to ophthalmology and neurosurgery outpatient clinic. MRI with contrast revealed pituitary adenoma. Laboratories results showed TSHS:0.9773(0.35-4.94)uIU/ml, prolactin:0.51(4.04-15.2)ng/ml, testosterone less than 2.50(boys:13-17:28-1110)ng/ml, growth hormone was more than 40,00(>10.0)ng/ml. He was performed transsphenoidal removal cystic tumor. Pathological result showed macroscopic: yellowish cystous mass;0.6x0.4x0.2cm whether microscopic: appropiate to pituitary adenoma, non chromophobe. After surgery, patient was given DDAVP nasal spray 10 microgram/day, L-thyroxin 100 microgram once daily. One year after surgery, patient complaint of acromegaly, decreased visual field, especially in right and left temporal side, cephalgia. On physical examination, body weight was 91.5kg, height was184.5 cm. There was hemianopsia bitemporal. Tanner stage was A2P4G4. MRI with contrast showed pituritary adenoma relapse. Bone age was normal with height percentage based on it is about 96.8%. Tanner Whitehouse showed adult height 186.4cm. Thorax X ray showed heart and lungs were normal. Laboratories results revealed IGF1:1359(237-996)microgram/L, FT4:1(0.89-1.76)ng/dl; TSHS:0.3(0.5-4.94)microIU/ml(12-18yo), testosterone:435.1(28-1110) ng/dl. Working diagnosis was pituitary adenoma relapse post tumor resection, panhypopituitarism, diabetes insipidus. Testosterone 150mg once per month was added. Relapse of pituitary adenoma in children must be considered in the recurrence of clinical manifestations.

Multiple pituitary hormone deficiency: beware of combined hormones deficiency.

Multiple Pituitary Hormone Deficiency (MPHD) is an endocrine disorder due to combination of pituitary hormones deficiencies. Clinical manifestations vary due to the combination of individual hormone deficiencies. The diagnosis is established based on history, signs and symptoms, hormonal and radiological examination. MPHD should be managed by hormones replacement according hormone abnormalities. The objective is to present a case of multiple pituitary hormones deficiency in a child, focusing in diagnosis and management. A 14 years-old boy, come with main complaint of short stature and delayed puberty. The height was below the 3rd percentile for age. Patient also suffered from micropenis. Tanner stage was prepuberta. Laboratories showed peak stimulated growth hormone concentration test was below 10 ng/mL, low levels of IGF 1 and IGF-BP3; FT4: 5.99ng/dl (normal:4.6-11),TSH: 3.08 IU/mL (normal:0.4-7.0); non stimulated LH level: 0.23 mIU/µL (cut-off limit prepubertal-pubertal level was 0.6 IU/L), FSH: 1.6 mIU/µL; testosrone: <15 ng/dL (normal basal testosterone: 19 ng/L). Working diagnosis was GH deficiency and hypogonadotrophic hypogonadism. This patient treated with growth hormone and testosterone. The height increased 10 cm during 10 months growth hormone treatment and the penile length increased became normal range. This paper reported growth hormone deficiencies accompanied by hypogonadotrophic hypogonadism. Facing patient with pituitary hormone deficiency must be aware of the abnormality of other pituitary hormone.

Quality of life in monogenic diabetes (a case report)

Monogenic diabetes in children mostly results from mutations in genes that regulate beta-cell function. It may be dominantly or recessively inherited or may be a de novo mutation and hence a spontaneous case. Quality of life is important in management of patient with monogenic diabetes. Objective is to analyze quality of life in a patient with monogenic diabetes. A-19year old, girl, 29.5 kg, sufferred from polyuria, polydipsia, and polyphagia. Family history of diabetes was positive. Physical examination revealed non obese, with colateral vein, and hepatosplenomegaly. Laboratory examination revealed fasting blood glucose 275 mg/dL, hemoglobin A1C/A1C 10.3%, C-peptide 4.2ng/mL (normal:0.9-7.1ng/mL), ALT:110 U/L, AST:115 U/L; HDL:70 µg/dL, LDL:57mg/dL, total cholesterol:319mg/dL, and triglyceride:2030 mg/dL. Liver biopsy revealed hepatosteatosis. She was diagnosed with monogenic diabetes and Nonalcoholic Steatohepatitis (NASH). Patient was given glibenclamide 5 mg twice daily; insulin detemir 14 IU; metformin 500 mg twice daily, with uncooked corn starch. After three months of treatment random blood glucose became 132 mg/dL and A1C became 7.7%; insulin was stopped. Seven months later random blood glucose increased to 287.5 mg/dL, ALT: 204 U/L, and AST: 257 U/L. Insulin was readminestered and glibenclamide were increased to three times daily. A1C evaluation revealed 5.7%. Diabetic nephropathy (DN) occurred, but after a month of captopril, proteinuria was improved from 2.8 g/24 hrs to 1.5 g/24 hrs. Diet for DN was put to therapy. No retinopathy was found. Measurement of quality of life using Diabetes Quality of life (DQOL) revealed satisfaction with life 65.8%, impact of diabetes 55%, worries about diabetes 50.9%, and overall her health was poor. Conclusion is hyperglycemia, nonalcoholic steatohepatitis, hypertriglycemia, and diabetic nephropathy reported as clinical course of monogenic diabetes. The quality of life revealed satisfaction.

Osteogenesis imperfecta in children: Indosesian experiences

Medical management of osteogenesis imperfecta (OI), a genetic disorder of connective tissue characterized by reduced bone mass and frequent fractures, is focused on maximizing patients’ mobility and function. Many methods of pharmacological treatment have been introduced for the severe forms of OI, including calcium, anabolic steroids, growth hormone, and calcitonin, without consistent benefit. Recent studies reported beneficial effect of intravenous and oral bisphosphonates on moderate to severe form of OI in children. This report is to review OI cases in Indonesian children and to know the effect of bisphosphonate treatment for them. Data on age, gender, age at diagnosis, availability of bisphosphonate treatment, and its effects were collected from Indonesian OI children registry, which documented from April to June 2012. Fourteen centers which have members of pediatric endocrinology chapter, Indonesian Pediatric society, were involved in obtaining data for the registry. Forty-six OI cases (17 female), who were diagnosed at the age of 7 days-11 years old and mostly categorized as type 3 of OI, were recorded. Two patients were died before commencing treatment. There were twenty-seven (27/46) patients received bisphosphonates, which were administered to moderate to severe cases. Two patients,who were treated, were died due to hyperthermia after the first day of pamidronate infusion, and pneumonia aspiration. Twenty-five patients received intravenous pamidronate and 3 oral alendronate. Liver and renal function test, and serum electrolyte were evaluated before and after treatment. Most patients reported decreased irritability, increased muscle tone and mobility. In addition, despite hyperthermia in one case, no serious adverse effects documented. Although some patients had government health insurance for the poor, unfortunately, the medicine, which is considered expensive for the patients, is not yet included in the drug list of government insurance. Most of registered OI cases in Indonesian children were type 3. More than half of the cases underwent treatment with bisphosphonates with beneficial effects, although long-term follow up and well-documented data are required.