7 research outputs found
A family with acute intermittent porphyria
Porphyrias are inherited defects in heme metabolism that result in excessive secretion of porphyrins and porphyrin precursors. Porphyrias can be classified into acute, (neuropsychiatric), cutaneous and mixed forms. There are seven main types of porphyrias; acute intermittent porphyria and plumboporphyria are predominantly neuropsychiatric; congenital erythropoietic porphyria, porphyria cutanea tarda and erythropoietic protoporphyria have predominantly cutaneous manifestations and hereditary coproporphyria and variegate porphyria are classified as mixed as they both have neuropsychiatric and cutaneous features. They cause life-threatening attacks of neurovisceral symptoms that mimic many other acute medical and psychiatric conditions. Lack of clinical recognition often delays effective treatment, and inappropriate diagnostic tests may lead to misdiagnosis and inappropriate treatment. Although the specific enzyme and gene defect have been identified, diagnosis and treatment of these disorders present formidable challenges because their signs and symptoms mimic other common conditions. We present a case report of a 13 years old girl who suffers from acute intermittent porphyria and the family tree showing all members who suffer from it
Familial chylomicronemia in a nine months old infant
Familial chylomicronemia syndrome is a rare disorder of lipoprotein metabolism due to familial lipoprotein lipase or apolipoprotein C-II deficiency or the presence of inhibitors to lipoprotein lipase. It manifests as eruptive xanthomas, acute pancreatitis, and lipaemic plasma due to marked elevation of triglyceride and chylomicrons levels. We report a rare case of familial chylomicronemia in a 9-month-old infant, who was diagnosed after his plasma was incidentally found to be milky. Lipid profile showed familial chylomicronemia (Type 1 Hyperlipidemia). The infant was started on a low fat diet and advised a regular follow-up
Congenital malaria
Congenital malaria is a rare disorder which is difficult to interpret as most of the clinical features are similar to other diseases e.g. neonatal sepsis. It is defined as the presence of malarial parasites in the peripheral smear of the newborn from twenty four hours to seven days of life. We report 12 days old newborn who presented with high grade fever, reluctant to take feed, increasing pallor, jaundiced, dehydrated and lethargic. He was hypotensive, hypoglycemic, convulsing with hepatospleenomegally. He had a clear history of maternal fever (intermittent) for last three weeks and increasing pallor. His MP test was positive. Both mother and child were treated and later discharged when they fully recovered
Investment in paediatric tuberculosis prevention in Pakistan: loss or gain
OBJECTIVE: To assess the effectiveness of paediatric tuberculosis prevention, by reevaluation factors in children exposed to tuberculosis from less privileged strata of Pakistan.
METHODS: This cross sectional descriptive study was conducted at National Institute of Child Health, from January 2004 to December 2005. Paediatric patients under 15 years of either gender, diagnosed with active tuberculosis were enrolled. Interviews were conducted with parents regarding common preventive measures and factors advocating tuberculosis spread. Later factors leading to non-compliance to safety recommendations were also evaluated.
RESULTS: Fifty five (70%) children younger than 5 years, had index cases in direct contact within their own house. Fifteen (14%) patients contracted the infection from neighbours, with 11 being older than 5 years. There were 82 (51%) cases with Protein Calorie Malnutrition (PCM). Total of 66(41%) cases of PCM were (p \u3c 0.005). Data showed 123(77%) children living in a family with 5 or more members. Sixty eight (55%) children of these large families had to live in a single room house.
CONCLUSION: There is a high frequency of direct contact tuberculosis in children belonging to the lower socioeconomic class. This is attributed to poor housing condition and over crowding. The current paediatric tuberculosis prevention strategies as adapted from World Health Organizations\u27 Millennium Development Goals are ineffectual to make changes in children exposed to tuberculosis from less privileged strata of Pakistan. Our societal and demographic factors remain static, continually exposing our children to higher risk of tuberculosis exposure
Incomplete Kawaski disease: are we missing it
Kawasaki disease, also known as mucocutaneous lymph node syndrome or infantile polyarteritis nodosa is an acute febrile vasculitis of unknown etiology with a predilection for coronary arteries and potential for aneurysm formation. In Incomplete Kawasaki disease, children with fever lack the sufficient number of criteria to fulfill the epidemiologic case definition and are diagnosed when coronary artery disease is detected. We present a case report of a one and a half years old girl who came with features of incomplete Kawasaki disease, high grade fever, irritability, history of conjunctivitis and cracking of lips. She was investigated and had a platelet count of 902 x 10(9)/L, ESR was 71 mm/hr and CRP was also raised to 12.8 mg/l. Cardiac evaluation and echocardiography was done which showed dilated coronary arteries \u3e3mm on the left side and 4mm on the right side with early aneurysmal changes. She was treated with immunoglobulin and aspirin and improved
Safety of insulin tolerance test for the assessment of growth hormone deficiency in children
OBJECTIVE: To determine the safety of insulin tolerance test (ITT) for assessing growth hormone (GH) deficiency in children.
METHODS: This hospital based study was conducted at the National Institute of Child Health, Karachi from 1st November 2008 till 30th October 2009. All children suspected of growth hormone deficiency, were included after excluding all other causes of short stature. Verbal informed consent was taken from the parents. Children less than 2 years of age, weighing less than 10 kg, untreated/inadequately treated hypothyroidism or Addison\u27s disease, epilepsy, having history of hypoglycaemic fits or cardiac disease were excluded. All children were subjected to the international standard protocol of ITT and their samples of growth hormone and blood sugars were drawn. Complications during the procedure like hypoglycaemia, hypothermia, loss of consciousness, fits, vomiting and failure to achieve hypoglycaemia were recorded. Insulin tolerance test was performed on a total of 168 subjects. The data was entered in SPSS version 17 for analysis.
RESULTS: A total of 168 children were subjected to the ITT. Four of them were abandoned as they could not achieve hypoglycaemia despite repeating the dose of insulin. Results were analyzed on 164 children whose mean age was 10 +/- 3.5 years, There were 96 (58%) males and 68 (41%) females. Over all 79.8% children achieved hypoglycaemia. None of the subjects developed any complication (fits, loss of consciousness,) or required intravenous glucose during the test and it was completed in all children with close monitoring. The results showed that there was a significant effect of time after insulin administration on both the blood glucose level (BG) and growth hormone (GH) levels. The blood glucose level decreased rapidly after administration of insulin and was lowest 30 minutes after injection and showed an increasing trend in subsequent readings, becoming almost equal to the baseline value 120 min after injection. From the study group 111 (66%) children were diagnosed as having growth hormone deficiency, 52 (31.3%) were normal and 1 (0.6%) had growth hormone insensitivity.
CONCLUSION: ITT in children was found to be a safe and reliable test but can be potentially dangerous and requires very close monitoring and supervision and should be performed in a center with experienced staff