RESUMO
Methylmalonic Acidemia [MMA] is an inborn error of metabolism that results in accumulation of methylmalonic acid in blood and increased excretion in urine. The effects of MMA vary from mild to life threatening and it usually presents in early infancy. Affected infants can have vomiting, dehydration, hypotonia, developmental delay and failure to thrive. The emergency treatment of the newborn with MMA mainly comprises rehydration and promotion of anabolism, followed by long-term dietary management by both the restriction of precursor amino acids using a low protein diet and avoidance of prolonged fasting. Prognosis depends on the type of MMA and whether the condition is well controlled in general and during episodes of metabolic decompensation. We report here the presentation and management of a 2-year boy with MMA who failed to achieve expected milestones for age. To the best of our knowledge, only one case of MMA has been reported from Pakistan
RESUMO
To study the frequency of Helicobacter Pylori [HP[infection among children with recurrent abdominal pain [RAP]. Cross-sectional comparative study. Military Hospital [MH], Rawalpindi from December 2011 to February 2012. One hundred children of either gender aged 2 to 12 years presenting with RAP were tested for HP at Paediatric OPD MH, Rawalpindi who consented to participate in the study. Those children who tested positive for Helicobacter Pylori Stool Antigen Test [HPSAT] were labeled as those having Hp infection. The stool assay was performed using the HpSAT kit and the socio-demographic and clinical profiles of children were associated. Out of 100 children included in the study HpSAT was positive in 38% children. Frequency of Hp infection was significantly associated with source of drinking water [p = 0.014], socioeconomic status [p =0.001] and positive family history of dyspepsia [p= 0.023]. While age and gender have no significant association with HP infection. Hp infection is very common in children presenting with RAP in our Paediatric OPD. Children with family history of dyspepsia, from low socioeconomic class and those drinking filtered water are at greater risk for HP infection. It is recommended that children from other populations in our country should also be tested in their medical health facilities in order to have a wider analysis of this problem in our setup
RESUMO
Objective: To determine the effect of place of birth, mode of transport and medical skills of the accompanying person on mortality of neonates
Study Design: A descriptive study
Place and Duration of Study: Military Hospital [MH], Rawalpindi from October 2011 to March 2012
Patients and Method: One thousand two hundred and ninety three neonates of either gender under the age of 28 days admitted to NICU either as indoor or outdoor were entered in the study. Data included high risk obstetric factors, gestational age, birth weight, APGAR score, gender, need for resuscitation, diagnosis, complications, place of delivery, mode of delivery and outcome. The associations between the place of delivery, mode of delivery and medical skills of the accompanying person with the neonatal mortality were associated using the Pearson Chi-Square method
Results: A total of 1293 neonates were included in the study and their data regarding place of delivery and mode of transport was evaluated. Four hundred and two [402/1293] cases died in our NICU and the mortality rate of the neonates admitted in our setup was 31.1%. The breakup of neonatal deaths was further subdivided into the patients born in health care with NICU facility [25%], those born in health care without NICU facility [33.60%] and those born in the community setting [40.54%]. The aforementioned percentages were calculated out of the total live births in that particular setup and do not represent mere breakup of total mortality. A total of 50.32% neonates brought to hospital in an unequipped vehicle expired versus 2.28% mortality of neonates that were brought in a medically equipped vehicle. The neonatal mortality rate in patients accompanied by unskilled personnel was 40% versus skilled personnel which was 1.62%. Statistically significant associations using Pearson Chi-Square method were seen between the place of delivery, mode of transport, the skills of the person accompanying the patient in the transport and neonatal mortality [p value = 0.001 each]
Conclusion: Results of this study prove that the quality of birth services and patient transport mechanisms directly affect the neonatal survival and babies who are born in community setting, transported in unequipped vehicle without a skilled medical attendant are at a higher risk for mortality than the patients born in NICU facility, transported in an equipped vehicle and accompanied by skilled medical attendant
RESUMO
Etiology of neonatal seizures [NNS] is diverse and hypocalcemia is one of the treatable causes. Neonatal hypocalcemia [NHC] due to congenital hypoparathyroidism, either permanent or transient, is extremely rare. Its biochemical abnormalities include hypocalcemia, hyperphosphatemia and low levels of intact parathyroid hormone [PTH]. Isolated congenital hypoparathyroidism in which deficiency of PTH has no association with maternal, syndromic or endocrine defects is a very rare entity. We are reporting a case of a newborn who presented with seizures on the 5th day of life and later on investigations revealed hypocalcaemia due to isolated congenital hypoparathyroidism
RESUMO
Takayasu arteritis is a systemic vasulitis of large vessels that mainly involves the aorta and its branches. It normally presents in third decade of life and has rarely been reported in children under 10 years of age. We report here a case of Takayasu arteritis in a 5 years old girl who presented with headache, generalized body swelling, severe hypertension, proteinuria and minimal functioning kidneys. Conventional angiography demonstrated narrowing of descending aorta, right subclavian artery and right common iliac artery. She responded steroids, diuretics, antiplatelets and digoxin and discharged home on maintenance therapy.