Pakistani Boy Research Articles

Rapid-onset methemoglobinemia from traditional-medicine-induced potassium nitrate poisoning: successful treatment with methylene blue—a case report

BackgroundPotassium nitrate poisoning is a rare but potentially serious condition that can result in methemoglobinemia and subsequent cyanosis. This case report presents a unique instance of rapid-onset methemoglobinemia resulting from the ingestion of a traditional medicine preparation containing potassium nitrate, known as “kalmi shora.”Case presentationA 14-year-old Pakistani boy reported to the emergency department with a history of sudden-onset headache, drowsiness agitation, irritability, and generalized cyanosis. Pulse oximetry showed a concerning oxygen saturation level of 58%, whereas arterial blood gas analysis revealed a normal partial pressure of oxygen (90 mmHg). The profile of abrupt onset of symptoms, generalized cyanosis, and the discrepancy between the partial pressure of oxygen and oxygen saturation readings necessitated a comprehensive assessment including inquiries into potential toxins. The peculiar appearance of the blood, resembling chocolate in color, further indicated the possibility of methemoglobinemia. The patient was successfully treated with methylene blue, leading to a prompt resolution of symptoms.ConclusionThis case highlights the significance of considering toxin exposures, such as traditional-medicine-induced poisoning, in emergency settings. The report contributes to the medical literature by highlighting the potential risks associated with traditional remedies and emphasizes the critical role of prompt diagnosis and intervention in optimizing patient outcomes. Recognition of the specific etiology of methemoglobinemia, in this case, traditional medicine ingestion, is essential for effective management in emergency medicine.

Long term follow-up of vitamin D dependent rickets type IA caused by novel mutation in cyp27b1 in a 2.5 years old Pakistani boy: A case report

Rickets usually caused by deficiency of vitamin D and it’s a condition which affects bone development and leads to softening and weakling of bones in children. But there are rare inherited problems reported which leads to rickets and these are, Vitamin D Dependent Rickets Type 1, Vitamin D Dependent Rickets Type 2 (also known as Vitamin D resistant rickets) and 25 hydroxylase deficiency rickets.

Fibrodysplasia ossificans progressiva (stone man syndrome): a case report

BackgroundFibrodysplasia ossificans progressiva is an ultrarare autosomal dominant disorder and disabling syndrome characterized by postnatal progressive heterotopic ossification of the connective tissue and congenital malformation of the big toes. Fibrodysplasia ossificans progressiva has worldwide prevalence of about 1 in 2 million births. Nearly 90% of patients with fibrodysplasia ossificans progressiva are misdiagnosed and mismanaged and thus undergo unnecessarily interventions. So far, the number of reported existing cases worldwide is about 700. Clinical examination, radiological evaluation, and genetic analysis for mutation of the ACVR1 gene are considered confirmatory tools for early diagnosis of the disease. Association of fibrodysplasia ossificans progressiva with heterotopic ossification is well documented; however, postsurgical exaggerated response has never been reported previously, to the best of our knowledge.Case presentationWe report a case of a 10-year-old Pakistani boy brought by his parents to our institution. He had clinical and radiological features of fibrodysplasia ossificans progressive and presented with multiple painful lumps on his back due to hard masses and stiffness of his shoulders, neck, and left hip. He underwent surgical excision of left hip ossification followed by an exaggerated response in ossification with early disability. Radiological examination revealed widespread heterotopic ossification. All of his laboratory blood test results were normal.ConclusionFibrodysplasia ossificans progressiva is a very rare and disabling disorder that, if misdiagnosed, can lead to unnecessary surgical intervention and disastrous results of early disability. We need to spread knowledge to physicians and patients’ family members about the disease, as well as its features for early diagnosis and how to prevent flare-up of the disease to promote better quality of life in these patients.

Unexplained cyanosis revealing hepatopulmonary syndrome in a child with asymptomatic congenital hepatic fibrosis: a case report

IntroductionHepatopulmonary syndrome is a rare disease that affects patients of any age with acute or chronic liver disease. Liver transplantation is the only therapeutic option of proved benefit, and can result in substantial improvement or total improvement in postoperative gas exchange abnormalities.Case presentationWe report the case of a cyanotic 13-year-old Pakistani boy whose chest computed tomography scan showed normal lung fields and mediastinum with incidental findings of a prominent liver surface with a collateral vein connecting a portal cavernoma to the dilated terminal inferior vena cava. Sonography of his abdomen along with a portal venous Doppler study showed multiple collateral veins replacing the portal vein. A liver biopsy revealed congenital hepatic fibrosis. Contrast-enhanced echocardiography with agitated saline and a 99m Technetium-macroaggregated albumin perfusion lung scan confirmed intrapulmonary shunting. The patient underwent a successful liver transplantation that resulted in improved gas exchange.ConclusionsHepatopulmonary syndrome should be included in the differential diagnosis of unexplained hypoxemia with an evaluation of possible portal hypertension or liver disease even in the absence of other clinical symptoms.

Acute Amoebic Appendicitis: Case Reports and Review of Parasitic Appendicitis.

Amoebic appendicitis is very rare, occurring in about 0.5% to 2% of acute appendicitis, and usually not reported in children. We report a case of confirmed acute amoebic appendicitis complicating amoebic colitis in a 7-year-old Pakistani boy living in southern Jeddah, Saudi Arabia, and briefly review the literature on parasitic appendicitis.

Two children with rapid onset obesity combined with respiratory and endocrine dysfunction. do they have ROHHAD?: Abstract G234(P) Table 1

We present two children with rapid onset obesity presenting to hospital with acute respiratory failure requiring admission to paediatric intensive care within a week of each other. The first case is a Caucasian girl who had exhibited hyperphagia and food stealing behaviour from the age of 17 months. Aged three years old, she suffered a respiratory arrest in hospital where she was admitted with acute renal failure. At this point, she weighed 32 kg (BMI 22 kg/m 2 , 3.4 SDS). Investigations revealed hyperprolactinaemia (8087 mu/l), a failed growth hormone (GH) stimulation test (peak 0.2 ug/l) and hypernatraemia (184 mmol/l). The second case, a British Pakistani boy, with no family history of consanguinity, weighed 33 kg at 2 years of age, (BMI 29 kg/m2, 4.9 SDS). Aged 3, he has already experienced two respiratory arrests secondary to minor lower respiratory tract infections. Respiratory sleep studies showed a mixed pattern with both central and obstructive sleep disordered breathing for both children. Both cases are now established on overnight BIPAP ventilation. A diagnosis for both children of ROHHAD syndrome (Rapid Onset Obesity with Hypoventilation, Hypothalamic and Autonomic Dysfunction) has been suggested. First described in 2000, ROHHAD is extremely rare with only 75 cases documented in the literature. Suggested diagnostic/descriptive criteria for ROHHAD syndrome include alveolar hypoventilation plus >1 of the following: rapid onset obesity, hyperprolactinaemia, disordered water balance, central hypothyroidism, failed GH stimulation test, corticotrophin deficiency and delayed/precocious puberty. Both children demonstrate several of these criteria (table 1). ROHHAD is associated with the development of neural crest tumours and with potentially fatal respiratory arrests. Management of ROHHAD is largely supportive but includes monitoring for tumours. We discuss whether both of these children who presented within a few weeks of each other have this rare condition of ROHHAD.

A neonatal presentation of factor V deficiency: A case report

BackgroundFactor V deficiency is a rare autosomal recessive coagulation disorder. Awareness of presenting features and management is important to avoid bleeding complications associated with mortality and neurodisability.Case presentationA 6-day-old Pakistani boy was admitted with bleeding from the left nipple. His parents were first cousins. A coagulation screen showed a prothrombin time of 41 s (control 14 s), a partial thromboplastin time of 132 s (control 33 s) and a normal thrombin time of 15 s (control 14 s). Factor V activity was <0.01 IU/ml. Oral tranexamic acid was started. At 5 weeks of age the child presented with irritability, lethargy and reduced feeding and a drop of hemoglobin to 5.6 g/dl. A cranial computed tomography scan showed a right intra-cerebral bleed extending from the frontal lobe to the parieto-occipital region with shift of the midline to the left. A regime of 20 ml/kg of fresh frozen plasma four times a week was instituted and has prevented further bleeds up to the present age of 21 months. Neurodevelopment remained normal.ConclusionThis case illustrates that in an unusually bleeding newborn of consanguineous parents rare severe homozygous bleeding disorders need to be considered. Nipple bleeding may be the first presentation of a congenital bleeding disorder. In cases of factor V deficiency where factor concentrates are not available long term use of fresh frozen plasma can prevent potentially life threatening bleeding.

Laryngo-onycho-cutaneous syndrome associated with familial benign hypercalcemia

A Pakistani boy had chronic ulceration of the cheeks, generalized nail dystrophy, ulceration and hypergranulation of the nail beds, conjunctiva, and vocal cords, and dental enamel hypoplasia. These features are consistent with laryngo-onycho-cutaneous (LOCS) syndrome or Laryngeal and Ocular Granulation tissue in children from the Indian subContinent (LOGIC) syndrome. Both he and his elder brother had elevated levels of serum calcium consistent with familial benign hypercalcemia. Laryngo-onycho-cutaneous syndrome is a newly recognized condition and its association with familial benign hypercalcemia has not been previously reported.

Percussion myoedema in a Pakistani boy with Berardinelli Seip lipodystrophy syndrome

Clinical GeneticsVolume 44, Issue 5 p. 277-278 Percussion myoedema in a Pakistani boy with Berardinelli Seip lipodystrophy syndrome Q. Ghanem MD, FRCPC, Corresponding Author Q. Ghanem MD, FRCPCMD, FRCPC National Defence Medical Centre 1745 Alta Vista Ottawa Canada K1A OK6Search for more papers by this author Q. Ghanem MD, FRCPC, Corresponding Author Q. Ghanem MD, FRCPCMD, FRCPC National Defence Medical Centre 1745 Alta Vista Ottawa Canada K1A OK6Search for more papers by this author First published: November 1993 https://doi.org/10.1111/j.1399-0004.1993.tb03899.xCitations: 4AboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Share a linkShare onFacebookTwitterLinked InRedditWechat No abstract is available for this article.Citing Literature Volume44, Issue5November 1993Pages 277-278 RelatedInformation

A Pakistani Boy with Congenital Abnormal Factor V

A Pakistani Boy with Congenital Abnormal Factor V