Nemaline Myopathy With a Compound Heterozygous Mutation: A Case Report.

A class of genetically based congenital myopathies known as nemaline myopathies is defined by the development of nemaline rods within muscle fibers. We present a case involving an eight-year-old boy who presented with a history of delayed motor development, proximal muscle weakness, and neck flexor weakness. Muscle enzymes were normal, and electrophysiological studies revealed a myopathic pattern. Nemaline myopathy (NM) was diagnosed with the help of clinical exome sequencing, which showed a compound heterozygous mutation with a novel variant in the nebulin (NEB) gene.

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. The child was discharged on home oxygen therapy, and the parents were counseled about genetic testing and informed about the prognosis and requirement for home ventilation therapy, as well as parental testing.

A Rare Case of Congenital Generalized Lipodystrophy.

Congenital generalized lipodystrophy type 2 (CGL2) is a rare autosomal recessive disorder characterized by the near-total absence of adipose tissue, leading to various metabolic complications. We present the case of a one-year-old male who exhibited progressive abdominal distension from six months of age. Physical examination revealed distinctive features including triangular facies, hypertelorism, an emaciated appearance with absent buccal fat, and hepatosplenomegaly. Laboratory investigations showed elevated transaminases and a deranged lipid profile, while imaging confirmed hepatosplenomegaly without systemic anomalies. A liver biopsy indicated macrovesicular steatosis and impending cirrhosis. Genetic testing revealed a homozygous pathogenic variant in the BSCL2 gene (c.604C>T), confirming CGL2. The child is under regular follow-up, with genetic counseling provided to the parents. This case underscores the importance of early recognition, genetic diagnosis, and regular monitoring in managing this rare condition.

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. Further investigations confirmed SSPE, with elevated IgG levels in serum and cerebrospinal fluid (CSF) and positive measles IgG antibodies in CSF. Treatment included isoprinosine, lamivudine, and intrathecal interferon-alpha for symptom management and disease progression. Despite atypical SSPE features, subclinical measles infection was considered a probable cause. The patient showed partial improvement post-treatment and was discharged for follow-up. By reporting this case, we would like to emphasize clinical judgment, early detection of the symptoms, and lateral thinking to diagnose fatal conditions such as post-measles SSPE, even in fully immunized patients.

Silvery Gray Hair Syndrome With Hemophagocytic Lymphohistiocytosis: A Case Report.

Griscelli syndrome (GS) is a rare autosomal recessive disorder, which has been classified into three subtypes based on clinical and genetic differences. GS subtype 2 is commonly associated with hemophagocytic lymphohistiocytosis (HLH) and recurrent infections due to immunodeficiency. In this study, we describe a four-month-old boy with genetically proven GS2, with neurological and immunological manifestations. He presented with fever, refusal of feeds, drowsiness, and multiple episodes of seizures. Examination revealed hypopigmented skin, silvery gray hair, and organomegaly. The child developed features of HLH, fulfilling clinical and laboratory criteria. Neuroimaging findings were in concordance with HLH of the central nervous system. Microscopic examination of the hair showed clumps of melanin pigment along the hair shaft. All findings were in favor of GS type 2, complicated with HLH, which was later confirmed with a homozygous deletion of the RAB27A gene on exome sequencing. Unfortunately, the baby succumbed to death due to severe sepsis and multiorgan dysfunction. The silvery gray hair, with typical hair microscopic findings, and association with HLH are strong indicators for this potentially fatal condition and aid in prompt diagnosis and initiation of treatment. Hematopoietic stem cell transplantation is the only lifesaving treatment option.

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. He had repeated extubation failures and the development of quadriparesis with areflexia. Electrophysiology studies were consistent with CIP with acute motor and sensory axonal polyneuropathy and elevated muscle enzymes. He was treated with supportive measures and physiotherapy along with management of the underlying condition. He recovered slowly over 68 days with a good recovery with a modified Rankin's scale score of 4 on discharge. There is a need to pay attention to all critically ill children and should have a high index of suspicion for the development of CIP/CIM which can have an impact on course and outcome.

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. While CFP is uncommon, its occurrence can pose multiple challenges for newborns, such as difficulties in nursing and incomplete closure of the affected eye. In cases where the paralysis persists, there is the potential for a long-term impact on the child's speech, emotional expressions, and mastication. Here we present the case of a six-month-old male child who experienced lower motor neuron palsy of the facial nerve on the left side since birth. This case contributes to the limited knowledge surrounding facial nerve aplasia and CFP, emphasizing the importance of early diagnosis and intervention to mitigate potential long-term complications.

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. We hereby report a novel case of CNS HLH triggered by dengue infection. An eight-month-old, well-grown male infant with uneventful antenatal, perinatal, and neonatal history was admitted with a history of febrile illness associated with cough, cold, vomiting, and loose motions and one episode of hematochezia and hepatosplenomegaly on examination. Investigations revealed bi-cytopenia, hyper-ferritinemia, deranged coagulation profile, liver function test, and hypo-fibrinogenemia. Dengue non-structural protein 1 ( NS1) antigen was positive. The child was given dexamethasone and continued supportive care with a diagnosis of dengue shock syndrome. The child showed an overall transient improvement, however, he had rebound fever followed by right focal convulsion on Day 9 of steroids. MRI brain revealed areas of diffusion-restricted embolic infarcts with diffuse leptomeningeal enhancement and mild cerebral edema, and CSF showed a total leukocyte count of 80 cells with 75% lymphocytic picture, histiocytes with hemophagocytosis, confirmatory of CNS HLH. Intrathecal methotrexate, hydrocortisone, and intravenous (IV) etoposide were started. However, the child succumbed to his illness. CNS involvement in dengue-triggered HLH needs to be suspected despite subtle neurological signs and aggressively managed following a multi-departmental approach to ensure the best clinical and neuro-developmental outcomes.

Neurocognitive, behavioral and socio-adaptive functioning assessment in a case of Coffin-Siris syndrome: A holistic approach/perspective beyond the identification of the disorder.

PURPOSE: Coffin-Siris syndrome (CSS) is a rare genetic disorder characterized by the presence of particular facies, congenital malformations, intellectual developmental disorder, behavioral issues, and speech and language impairment. Thorough neuropsychological assessments in the case of CSS have been reported infrequently, and its subdomains are poorly defined. A detailed description of the clinical, neurocognitive, behavioral, socio-adaptive sequelae of the patient with CSS is provided. RESULTS: The clinical diagnosis in the patient was confirmed by genetic analysis, which identified the presence of mutation of ARID1B gene; the parents' Sanger sequencing reported normal. The neuropsychological assessments revealed borderline intellectual functioning (IQ-75, verbal > performance) with a mild socio-adaptive deficit score of 64 as suggested by the adaptive scale. The behavioral profile reported that the child had significant difficulties in the attention subdomain with concern in social and thought subdomains. The child met the profile for mild severity of Autism Spectrum Disorder and did not meet the criteria for Attention Deficit Hyperactivity Disorder. In addition, the child had scholastic difficulties in reading and mathematical skills. CONCLUSION: Neurocognitive, behavioral, socio-adaptive functioning and comorbidity assessment in order to provide holistic management of such children after thorough evaluation is essential for their overall functioning.

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. OBSERVATIONS: The children, aged between 7 and 14 years, had more than 10 episodes of seizures per day in spite of polytherapy with valproate, lamotrigine, clonazepam, levetiracetam, and topiramate in various combinations. Electrographically, all showed the typical generalized 3 Hz spike wave discharges activated by hyperventilation. All the children became seizure free within 1 week after starting amantadine, and there was improvement in their school performance. The children continue to remain seizure free for 6-30 months now. No significant adverse effects were observed on addition of amantadine. DISCUSSION: Amantadine can be tried as a safe add-on drug for children with absence epilepsy refractory to multiple drugs. Further multicenter trials may be needed to prove its effectiveness, as the numbers are small.