Neurological Wilson's disease without hepatic involvement in an adolescent female.

A female adolescent presented with a 9 month history of progressive involuntary movements, initially manifesting as finger tremors and evolving into flinging motions of the extremities, resulting in an inability to walk over the last 4 months. Concurrently, she developed dysarthria. Neurologically, she exhibited normal power, rigidity and brisk deep tendon reflexes, with a downgoing plantar reflex. Contrast-enhanced MRI revealed hyperintensity in bilateral caudate lobes, basal ganglia and pons, indicative of Wilson's disease. Liver function tests and ultrasound were normal while Kayser-Fleischer rings were confirmed by slit lamp examination. Serum ceruloplasmin was low, 24-hour urine copper was elevated (125.5 mcg) and whole exome sequencing identified a heterozygous ATP7B mutation, confirming the diagnosis. Isolated neurological involvement without hepatic involvement is an extremely rare presentation and needs clinical expertise to delineate Wilson's disease as a possible aetiology.

Understanding the novel MCM8 gene mutation: primary ovarian insufficiency and uterine hypoplasia in siblings.

This case report elucidates a scenario involving two sibling sisters born out of consanguineous marriage-one initially presenting with lower respiratory infection, concurrently exhibiting short stature and primary amenorrhoea. Investigation into the primary amenorrhoea unveiled hypergonadotropic hypogonadism, confirmed by the absence of ovaries and a hypoplastic uterus on pelvic MRI. Genetic analysis via whole exome sequencing identified a homozygous variant NM_001282717.2: c.808C>T in the MCM8 gene, located on exon 8 of chromosome 20, inherited in an autosomal recessive manner. The scarcity of primary ovarian insufficiency cases linked to MCM8 highlights the necessity of thoroughly investigating the genetic and clinical consequences of such variants.

Dengue-associated longitudinally extensive transverse myelitis.

We diagnosed a patient with dengue fever who developed acute onset of sensorimotor quadriparesis with bladder involvement, and facial nerve involvement. Despite initial negative results in routine investigations and cerebrospinal fluid analysis, spinal MRI confirmed longitudinally extensive transverse myelitis. The aetiological workup was negative, prompting an investigation into the presence of dengue in the cerebrospinal fluid, which returned positive. This case underscores the importance of considering rare neurological complications in dengue, the value of advanced diagnostic techniques and the potential effectiveness of tailored interventions in challenging cases.