Search

This article discusses a case of congenital myasthenia syndrome (CMS) caused by a novel DPAGT1 gene mutation. CMS is a group of myasthenia syndromes that result from impaired transmission at the neuromuscular junction due to defective proteins. DPAGT1 is a gene responsible for glycosylation, and mutations in this gene can lead to CMS. The patient in this case was a 10-year-old girl who presented with proximal weakness and limited craniobulbar involvement. Next-generation sequencing revealed a compound heterozygous pathogenic mutation in DPAGT1, confirming the diagnosis of CMS. The patient showed significant improvement with treatment using pyridostigmine. This article provides valuable insights into the genetic basis and clinical presentation of CMS caused by DPAGT1 gene mutations. [Extracted from the article]

This article discusses a rare case of delayed myelination with dysthyroidism, specifically Allan-Herndon-Dudley syndrome (AHDS). AHDS is an X-linked disorder that presents with developmental delay, feeding difficulties, seizures, and other symptoms due to a defect in the MCT8 transporter, which leads to central hypothyroidism and peripheral hyperthyroidism. The article describes the case of a 5½-year-old boy with intellectual disability, stiffness of limbs, and abnormal twisting movements. The boy had a mutation in the SLC16A2 gene, which is associated with AHDS. The article also discusses the differential diagnoses and treatment options for this condition. [Extracted from the article]

The article presents a case study of a 10‑month‑old boy who altered sensorium along with right hemiparesis. Topics include considered clinical diagnosis of left middle cerebral artery territory AIS kept and MRI brain confirmed; examines sonography and Doppler of neck vessels, left internal carotid artery are not visualized; and the diagnosis of congenital thrombotic thrombocytopenic purpura, hemolytic uremic syndrome (HUS) considered and clinical exome sequencing are ordered.

Background: Autonomic dysfunction is common in children with Rett syndrome. They usually manifest with agitation, persistent screaming, constipation, gastroesophageal reflux, aerophagia, hyperventilation, and breath-holding episodes. Cardiovascular autonomic dysfunction may result in fatal a arrhythmia. Many of these events are mistaken for seizures and treated with antiepileptics.Methods: The present study was conducted in a tertiary care teaching hospital in north India for more than a six month period. MeCP2 mutation positive, 24 cases with Rett syndrome and 24 age-matched healthy girls were evaluated for cardiovascular autonomic dysfunction (heart rate variability, head-up tilt test, and cold pressor test).Results: The mean age was 9.06 years (±3.4) and 9.75 years (±3.13) for patients and control subjects, respectively. The heart rate variability contributed independently by parasympathetic and sympathetic nervous system was significantly reduced in cases compared with control subjects (P = 0.033 and P = 0.001, respectively). There was significant sympathovagal imbalance with sympathetic overactivity in cases compared with control subjects (P = 0.001). The mean longest QTc interval was significantly prolonged in cases compared with control subjects (P = 0.001). Cold pressor test and head-up tilt test could be done in 16 Rett syndrome patients (because of poor cooperation) and in all 24 control subjects. The change in blood pressure during cold pressor test and head-up tilt test was not significantly different in cases and control subjects.Conclusions: Children with Rett syndrome exhibited significant cardiovascular autonomic dysfunction in the form of sympathetic overactivity, parasympathetic underactivity, and sympathovagal imbalance. These findings have potentially important therapeutic- and outcome-related implications. [ABSTRACT FROM AUTHOR]

Background Acute necrotizing encephalopathy (ANE) is a rare disorder characterized by encephalopathy following a febrile illness, mostly viral. Most cases are sporadic; however, recurrent and familial cases have been linked to RANBP2 mutation. Description of the case This is a description of a three and half years old girl with recurrent ANE with RANBP2 mutation (c.1754 C > T (p.T585M)). She had two episodes of encephalopathy, each following a short non-specific febrile illness. Neuroradiologically, she had typical findings involving bilateral thalami during the first episode and involving bilateral temporal and occipital lobes, bilateral cerebellar hemispheres and brainstem during the second episode. She was managed with intravenous gamma globulin and dexamethasone during both the episodes. She recovered significantly with residual deficits in her cognitive and language domains. Conclusions In relevant clinic-radiological scenarios both isolated and recurrent ANE should be considered because of treatment and long-term outcome related implications. [ABSTRACT FROM AUTHOR]