Role of therapeutic plasmapheresis in acute liver failure in paediatric patients: A case series.

Paediatric acute liver failure (PALF) is a rare yet severe condition that is associated with high mortality. Apart from liver transplant, no specific therapy exists, particularly in developing countries. Evidence suggests that removal of damage-associated molecular patterns, cytokines, toxins, and other metabolites that accumulate due to impaired liver function can enhance natural recovery.

Automatic neonatal sleep stage classification: A comparative study.

Sleep is an essential feature of living beings. For neonates, it is vital for their mental and physical development. Sleep stage cycling is an important parameter to assess neonatal brain and physical development.

Low-field magnetic resonance imaging in a boy with intracranial bolt after severe traumatic brain injury: illustrative case.

Background: Conventional magnetic resonance imaging (cMRI) is sensitive to motion and ferromagnetic material, leading to suboptimal images and image artifacts. In many patients with neurological injuries, an intracranial bolt (ICB) is placed for monitoring intracranial pressure (ICP). Repeated imaging (computed tomography [CT] or cMRI) is frequently required to guide management.

Hereditary Tyrosinemia Compounded With Hyperinsulinemic Hypoglycemia: Challenging Diagnosis of a Rare Case.

Hereditary tyrosinemia type 1 (HT-1) is a rare autosomal recessive disorder caused by a deficiency in the enzyme fumarylacetoacetate hydrolase (FAH), which catalyzes the final step in the tyrosine degradation pathway. Hereditary tyrosinemia is a heterogeneous disease with a wide spectrum of clinical manifestations involving hepatic, renal, or nervous systems. It has grave consequences if left untreated.

Co-existent Rhabdoid Tumor of The Kidney and Brain in a Male Infant: A Rare Case.

Malignant rhabdoid tumor of the kidney (MRTK) is a rare neoplasm of infancy. We report a case of a nine-month-old male infant who presented to the pediatrics outpatient department with the history of fever, lethargy, and abnormal head movements. On gross examination, the patient had a firm, non-tender, intra-abdominal mass at the right lumbar region with irregular margins.

Affected Children of Healthy Parents: Multiple Pediatric Cases of Autosomal Recessive Charcot-Marie-Tooth Disease in a Pakistani Family.

Charcot-Marie-Tooth (CMT) disease, also referred to as hereditary motor and sensory neuropathy (HMSN), is a heterogeneous group of disorders which primarily affects the peripheral nervous system. Clinically, the main features are progressive muscle weakness seen distally, along with wasting seen predominantly in the anterior compartments of the lower legs. The disease can broadly be classified into two groups, CMT1 and CMT2-based on inheritance patterns, paired with anatomical or electrophysiological findings.

Infiltrating the Heart and Kidney: A Rare Pediatric Case of Multisystem Langerhans Cell Histiocytosis from Pakistan.

Langerhans cell histiocytosis (LCH) is a rare, clonal disease of the monocyte-macrophage system, varying in its clinical presentation from mere self-healing skin and bone lesions to life-threatening multi-system disease. In descending order of frequency, the disease is known to involve the skeleton, skin, lymph nodes and lesser often, the liver, spleen, lungs, hematopoietic and central nervous systems. Here, we present a pediatric case of multi-system LCH in a five-year-old child, unique in its evident cardiac and renal involvement alongside other organ systems and important in how the diagnosis was aided by a fine needle aspiration cytology instead of the costlier histopathological procedures, in a setting with limited resources.

Infection-associated Hemophagocytic Lymphohistiocytosis: An Unusual Clinical Masquerader.

Hemophagocytic lymphohistiocytosis (HLH) secondary to an infection is a great impersonator. It is caused by hyperimmune activation, which leads to a wide array of hematological abnormalities. If the disease is untreated, it is usually fatal.