Acute Porphyria: An Unusual Case Of Quadriparesis, Hypertension, Recurrent Severe Cyclic Abdominal Pain, And Seizures.

Porphyria refers to a rare group of genetically inherited or acquired disorders that arise due to reduced metabolic activity of any of the enzymes in the haem biosynthetic pathway. Defect in any enzyme causes the presentation of symptoms of porphyria. The epidemiology of Acute Intermittent Porphyria (AIP) is complicated because of its rarity and delay in diagnosis. We present the case of a seven-year-old girl who presented with multisystem involvement; her symptoms were quadriparesis, hypertension, recurrent severe cyclic abdominal pain, and seizures. These symptoms together were not explained by the differentials taken into account. She presented before puberty with no family history of such conditions, while being born of consanguineous marriage. Her symptoms along with urinary porphobilinogen positivity test helped to reach the diagnosis of AIP in the absence of cutaneous manifestations. This case highlights the variable presentation of porphyria and emphasises the importance of appropriate and timely diagnosis and management in these patients.

Idiopathic Pulmonary Haemosiderosis: An Unusual Case Of Anaemia With Pulmonary Involvement.

Idiopathic pulmonary haemosiderosis is a rare disorder, with recurrent life-threatening alveolar haemorrhages and chronic lung parenchymal changes. It is associated with a triad of haemoptysis, iron deficiency anaemia, and diffuse pulmonary infiltrates. Although most cases are idiopathic, secondary haemosiderosis linked to known diseases has also been observed. Most of the cases remain undiagnosed because the disease is very low on the list of differentials. There is no specified age for the disease. The present study reports on an adolescent female patient who presented with microcytic anaemia and bilateral lung infiltrates to the National Institute of Child Health (NICH), Karachi, a tertiary care hospital. She was diagnosed with Idiopathic pulmonary haemosiderosis after ruling out other possibilities.

Frequency of Drug Induced Acute Kidney Injury in Pediatric Intensive Care Unit.

BACKGROUND: Acute kidney injury (AKI) is known to complicate one-third of cases in pediatric intensive care units (PICU), and almost one-fourth of these are due to nephrotoxic drugs (NTDs). Although stopping NTDs seems the most obvious option, it is not practically applicable. Many NTDs are the only existing option, and their potential benefits outweigh the risk of drug-induced AKI. OBJECTIVES: To assess the proportion of children receiving NTDs in the PICU and highlight the children who developed AKI. METHODS: A prospective observational study was conducted in the PICU of the National Institute of Child Health, Karachi. All children admitted to the PICU for at least 72 hours not diagnosed with any acute or chronic kidney disease were included. Serum creatinine (SCr) was done at admission and then after 72 hours. Data was entered and analyzed using IBM Corp. Released 2013. IBM SPSS Statistics for Windows, Version 22.0. Armonk, NY: IBM Corp. RESULTS: Of 99 children, 53 (53.5%) were male. NTD exposure was positive in 97 (97.9%), and 72 (72.7%) had high exposure (≥3 NTDs). Drug-induced AKI was diagnosed in 46 (46.5%). It was significantly related to high SCr even at admission and high NTDs exposure. The mortality rate in the AKI group was 17% compared to 4% in the non-AKI (p=0.02). CONCLUSION: Almost half of all PICU admissions were infants. Almost all patients were exposed to NTDs, and three-fourth experienced high exposure. AKI developed in 46% of patients and may be predicted by raised creatinine at the time of admission. Children exposed to ≥3 NTDs had a higher chance of drug-induced AKI.