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. Therefore, it is crucial to administer newborn's sleep in the neonatal intensive care unit (NICU). Currently, Polysomnography (PSG) is used as a gold standard method for classifying neonatal sleep patterns, but it is expensive and requires a lot of human involvement. Over the last two decades, multiple researchers are working on automatic sleep stage classification algorithms using electroencephalography (EEG), electrocardiography (ECG), and video. In this study, we present a comprehensive review of existing algorithms for neonatal sleep, their limitations and future recommendations. Additionally, a brief comparison of the extracted features, classification algorithms and evaluation parameters is reported in the proposed study.

Life-threatening complication of retropharyngeal abscess in an infant: a case report.

BACKGROUND: Deep neck space infections are uncommon in infants. Retropharyngeal abscess (RPA) is a deep space neck infection that can present with subtle signs and symptoms. Delay in diagnosis can lead to life-threatening complications. Here we describe life-threatening complication of retropharyngeal abscess. CASE PRESENTATION: We report a life-threatening complication of retropharyngeal abscess in 10-month old Asian infant weighing 8.2 kg. The patient presented with fever, right-sided neck swelling, hoarseness of voice, and respiratory distress. The clinical and radiological findings were suggestive of airway obstruction complicated by retropharyngeal abscess. The patient was urgently taken to the operating room and underwent (grade 3) intubation. After stabilization, the patient underwent endoscopic trans-oral incision and drainage, during which 5 cc pus was aspirated. Antibiotics were prescribed for 2 weeks following the procedure based on the sensitivity result of the pus culture. CONCLUSION: In retropharyngeal abscess, a delay in diagnosis can result in life-threatening complications. This report highlights the importance of prompt recognition of a threatened airway and the management of retropharyngeal abscess by emergency physicians. If an emergency physician suspects RPA with airway obstructions, the airway should be immediately secured in a secure environment by otolaryngologist and an anesthesiologist.

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. A low-field (0.064-T) portable magnetic resonance imaging (pMRI) machine may provide images in situations that were previously considered contraindications for cMRI. OBSERVATIONS: A 10-year-old boy with severe traumatic brain injury was admitted to the pediatric intensive care unit, and an ICB was placed. Initial head CT showed a left-sided intraparenchymal hemorrhage with intraventricular dissection and cerebral edema with mass effect. Repeated imaging was required to assess the brain structure because of continually fluctuating ICP. Transferring the patient to the radiology suite was risky because of his critical condition and the presence of an ICB; hence, pMRI was performed at the bedside. Images obtained were of excellent quality without any ICB artifact, guiding the decision to continue to manage the patient conservatively. The child later improved and was discharged from the hospital. LESSONS: pMRI can be used to obtain excellent images at the bedside in patients with an ICB, providing useful information for better management of patients with neurological injuries.

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. Some of the late complications of hereditary tyrosinemia include cirrhosis, liver nodules, hepatocellular carcinoma, hypophosphatemic rickets, nephrocalcinosis, glomerulosclerosis, and chronic renal failure. Rarely, infants with hereditary tyrosinemia may present with persistent hypoglycemia, which may be a result of acute liver failure or hyperinsulinism. Hyperinsulinemic hypoglycemia (HH), caused by dysregulation of insulin secretion from pancreatic ß-cells, leads to insulin driven glucose entry into the tissues and inhibits glycolysis, gluconeogenesis, fatty acid release, and ketone body synthesis. Hyperinsulinemic hypoglycemia can cause severe, persistent hypoketotic hypoglycemia. Diagnosing tyrosinemia type 1 can be a challenge as it is a heterogeneous disorder with a wide variety of clinical manifestations and complications. We herein report a rare case of a three-day-old male neonate with HT-1 compounded with HH.

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. Computed tomography scan of the abdomen revealed a lobulated soft tissue arising from the kidney with areas of necrosis. Brain magnetic resonance imaging was also performed, which showed a large heterogeneous lesion in the posterior fossa. Histopathologic study revealed loss of INI1 protein. Since MRTK and atypical teratoid rhabdoid tumor (ATRT) of the brain share a common mutation in the gene (hSNF5/INI1), hence a diagnosis of MRTK with co-existent ATRT of the brain was established. Actinomycin-D and vincristine failed to show any improvement and the condition of the patient deteriorated progressively, resulting in his death within 15 days of hospital admission.

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.

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. It can be inherited in the autosomal dominant, X-linked and rarely, the autosomal recessive fashions. Here, we present an unusual case of autosomal recessive CMT disease, in four out of six children of unaffected parents in a family.

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. We report the case of a four-year-old girl who presented to our tertiary care hospital with high-grade fever, frequent loose stools, and bleeding from the lips and gums. Investigations showed pancytopenia, hyperferritinemia, hypofibrinogenemia, and hypertriglyceridemia whereas the bone marrow biopsy revealed hemophagocytosis with trilineage suppression. Blood cultures grew Salmonella typhi. After ruling out other possibilities, the diagnosis of HLH was made as per the HLH-2004 diagnostic criteria. The patient responded well to culture-sensitive antibiotics and supportive treatment. We discuss the diagnosis and clinical course of this unique case and strive to create awareness about secondary HLH induced by common diseases, such as typhoid fever.