A Rare Case of Dyggve-Melchior-Clausen Syndrome: A Case Report.

Dyggve-Melchior-Clausen (DMC) disease, also known as DMC syndrome, is a rare, progressive genetic disorder that is characterized by skeletal and intellectual abnormalities. The case report involves a four-year-old male child presenting with marked short stature, intellectual disability, coarse facies, and microcephaly. Initial investigations, including blood tests and radiological evaluations, prompted further genetic testing via whole-exome sequencing.

The Role of Early Intervention Therapy in Neurodevelopmental Outcomes of Premature Infants.

Neurodevelopmental impairments are known to be more common in premature infants. Premature and low birth weight babies are now more likely to survive because of modern technologies and advancements in perinatal and postnatal care. However, long stays and exposure to harsh stimuli in neonatal intensive care units are known to have a negative impact on the developing neonatal brain.

COL4A1 Gene Mutation Masquerading as Cerebral Palsy: Report of a Rare Case.

The Collagen Type 4 alpha 1 (), is an important component of nearly all vascular basement membranes. Pathogenic mutation of this gene results in varied manifestations. In this report, we describe a two-and-a-half-year-old boy with an eventful perinatal period, global developmental delay, and epileptic spasms.

Basilicata-Akhtar Syndrome: Unraveling an Ultrarare Cause of Developmental Delay.

There is still more to learn about the etiology of extremely uncommon developmental disorders. A heterozygous or hemizygous pathogenic variation in male-specific lethal 3 (MSL3) causes the uncommon X-linked condition known as Basilicata-Akhtar syndrome, which is characterized by a global developmental delay that is evident from infancy, feeding difficulties, and muscle hypotonia. Thus far, over 40 cases have been documented.

Congenital Central Hypoventilation Syndrome: A Case Report.

Congenital central hypoventilation syndrome (CCHS) is a rare cause of apnea and hypoventilation requiring long-term multidisciplinary care. In this article, we report the case of a two-month-old female child who presented with recurrent apnea and cyanosis, requiring long-term ventilation. After ruling out other common causes of apnea like sepsis, metabolic disorders, and neuromuscular disorders, a genetic study was done, which confirmed the diagnosis of CCHS.

A Rare Case of Subacute Sclerosing Panencephalitis in an Immunized Patient.

This study presents a case of subacute sclerosing panencephalitis (SSPE), a rare neurologic disorder characterized by brain inflammation, typically triggered by measles virus reactivation or an abnormal immune response to it. This case involves a five-year-old male child with persistent fever, declining motor function, excessive sleepiness, and myoclonic jerks. MRI indicated potential ischemic changes or encephalitis, while electroencephalography showed SSPE-consistent patterns.

Critical Illness Polyneuropathy in a Child: A Case Report.

Critical illness polyneuropathy (CIP) and myopathy (CIM) are underreported conditions in critically ill children with prolonged intensive care unit stays and mechanical ventilation. We report a case of a 10-year-old boy with pneumococcal meningoencephalitis with severe sepsis and multiorgan dysfunction. The child required prolonged ventilation, sedation, and inotropic support.

A Rare Case of Isolated Congenital Facial Nerve Aplasia in an Infant.

Facial nerve aplasia is an exceptionally rare condition, with only a few reported cases in the existing medical literature. Congenital facial palsy (CFP) is characterized by the clinical manifestation of facial paralysis involving the seventh cranial nerve, either evident at birth or shortly thereafter. This condition is categorized based on various parameters, including the presence of trauma or developmental origins, unilateral or bilateral involvement, and whether the paralysis is complete or incomplete.

A Case Report on CNS Hemophagocytic Lymphohistiocytosis in an Infant With Dengue Hemorrhagic Fever.

India is an endemic country for dengue. The incidence of hemophagocytic lymphohistiocytosis (HLH) with dengue in children has been well-reported. However, central nervous system (CNS) HLH associated with dengue has not been described in the literature yet.

Amantadine for the Treatment of Refractory Absence Seizures in Children.

Introduction: Childhood epilepsy is a generalized epilepsy syndrome with a favorable response to antiepileptic drugs; however, a small percentage of typical absence seizures remain refractory to drugs. We studied the safety and efficacy of amantadine in children with refractory absence seizures.

Materials And Methods: Of 48 children with typical absence seizures attending the outpatient department of a tertiary care neurological center over a period of 3 years from July 2013 to June 2016, 4 children who were refractory to standard treatment for at least 1 year were selected and were started on amantadine 4-6 mg/kg/day, after obtaining informed consent.