Salmonella meningitis in a young child from Pakistan: a case report.

BACKGROUND: Salmonella meningitis is a rare but serious complication of Salmonella infection, primarily affecting infants, children, and immunocompromised individuals. CASE PRESENTATION: We present a case of a two-and-a-half-year-old Asian boy who developed Salmonella meningitis along with pneumonia and respiratory failure. Initially, he experienced symptoms of loose motions, fever, and irritability, which progressed to neck stiffness and brisk reflexes. Cerebrospinal fluid (CSF) analysis confirmed Salmonella typhi in the CSF. Due to the worsening condition, the patient was admitted to the intensive care unit, intubated, and switched to meropenem as the antibiotic of choice after an initial empiric therapy with ceftriaxone and vancomycin. With appropriate treatment, the patient showed significant improvement, including resolution of fever and respiratory symptoms. CONCLUSION: Management of Salmonella meningitis is often challenging primarily because of the fact that the empiric therapy for meningitis may not always provide coverage to the multi-drug resistant Salmonella species found in South Asia. Prompt administration of appropriate antibiotics based on sensitivity testing is crucial for successful management. This case emphasizes the importance of early recognition and effective management of this uncommon yet severe complication of Salmonella infection.

Mitochondrial neurogastrointestinal encephalomyopathy in a Pakistani female: a case report.

BACKGROUND: Mitochondrial neurogastrointestinal encephalopathy is a rare multisystem autosomal recessive disease caused by mutations in the TYMP gene, that encodes for thymidine phosphorylase. Mitochondrial neurogastrointestinal encephalopathy is a progressive degenerative disease characterized by a distinctive tetrad of gastrointestinal dysmotility, peripheral neuropathy, ophthalmoplegia with ptosis, and asymptomatic leukoencephalopathy. It provides a diagnostic dilemma to physicians in regions like Pakistan because of a lack of genetic study availability and associated financial constraints of the population. However, with careful examination and a few basic investigations, mitochondrial neurogastrointestinal encephalopathy can be diagnosed by ruling out most of the close differentials. CASE PRESENTATION: We report the case of a 23-year-old Asian female whose chief complaints were epigastric pain, bilious emesis, weight loss for 3 months, and bilateral lower limb weakness for 20 days. All clinical signs and symptoms along with relevant investigations including nerve conduction studies, electromyography, and magnetic resonance imaging of the brain were highly suggestive of mitochondrial neurogastrointestinal encephalopathy syndrome. Because of financial constraints, genetic studies could not be performed. The patient was managed with a multidisciplinary approach involving gastroenterology, physiotherapy, and nutrition departments. Currently, therapeutic options for the disease include allogeneic hematopoietic stem cell transplant and carrier erythrocyte entrapped thymidine phosphorylase; however, these could not be provided to the patient owing to certain limitations. CONCLUSIONS: As misdiagnosis and delayed diagnosis are quite common in this disease, the prime objective of this case report is to increase the basic understanding of this disease, especially its signs and symptoms, and address the limitations regarding the diagnostic investigations and management of patients with mitochondrial neurogastrointestinal encephalopathy.