Adult-Onset Neuropsychiatric Symptoms as the Presenting Feature of Xeroderma Pigmentosum Group G: A Report of a Rare Case.

Xeroderma pigmentosum is a rare autosomal recessive disorder resulting in heightened cutaneous photosensitivity due to aberrant DNA repair mechanisms. Early-life developmental delay and cognitive impairment have been described in xeroderma pigmentosum cases. However, psychiatric symptoms in adulthood as the presenting feature of xeroderma pigmentosum have not been reported. We report a young adult with xeroderma pigmentosum group G presenting with prominent neuropsychiatric manifestations and evidence of neurodegeneration. The clinical, laboratory, and radiological findings, skin biopsy, and the results of the genetic testing of the patient have been described after obtaining written and informed consent. A young adult male with skin photosensitivity since infancy developed hyper-religiosity, delusions, suicidal ideations, speech hypernasality, lower limb spasticity, and cognitive impairment over the past four years. The MRI of the brain showed diffuse cerebral atrophy. The skin biopsy from bilateral cheeks showed evidence of flattening and thinning of rete ridges, pigment incontinence, and perivascular and periappendageal inflammatory infiltrate. The whole exome sequencing in ethylenediaminetetraacetic acid (EDTA) blood revealed a compound heterozygous likely pathogenic mutation in intron 13 (c.2880-2A>G (3' splice site)) and a mutation in exon 15 (c.3146del (p.Asp1049ValfsTer12)) in the ERCC5 gene suggestive of xeroderma pigmentosum group G. This case highlights that prominent neuropsychiatric features in adulthood can occur due to xeroderma pigmentosum. Thus, xeroderma pigmentosum group G should be considered as a possibility among young adults presenting with neuropsychiatric features, evidence of neurodegeneration, and early-life skin photosensitivity.

An Extremely Rare LAMA2 Gene Variant c.442C>T (p.Arg148Trp) Causing Late-Onset LAMA2-Related Dystrophy.

Mutations in the alpha-2 subunits of the laminin gene (LAMA2) cause an autosomal recessive congenital muscular dystrophy (CMD) subtype known as laminin a2-related muscular dystrophies (LAMA2-RD). LAMA2-RD can present with a wide range of phenotypes ranging from severe infantile congenital muscular dystrophy to milder adult-onset limb-girdle muscular dystrophy. This case describes a 28-year-old Indian gentleman having childhood-onset focal seizures, gradually progressive proximal predominant lower-limb weakness for the past three years, elevated creatinine phosphokinase levels, and MRI brain suggestive of diffuse symmetrical periventricular white matter hyperintensities. The whole exome sequencing revealed a rare homozygous missense variant in exon 4 of the LAMA2 gene on chromosome 6 (c.442C>T[p.Arg148Trp]). Adult-onset limb-girdle muscular dystrophy with white matter imaging abnormalities, hyperCKemia, and seizures should evoke suspicion of LAMA2-RD. This case brings forth an ultra-rare genetic mutation that has not been previously reported in individuals of South Asian ethnicity leading to LAMA2-RD. More cases of late-onset LAMA2-RD from various ethnicities need to be reported to expand our understanding of the clinical-genetic spectrum of the disease.

Tubercular Mediastinal Lymphadenopathy Presenting as an Isolated Unilateral Vocal Cord Palsy and the "Sail" Sign.

Tuberculosis continues to remain a major public health challenge, especially in low- and middle-income countries. Unilateral vocal cord palsy in adults as the sole manifestation of tubercular mediastinal lymphadenopathy has been rarely reported. A 22-year-old lady presented with a history of hoarseness of voice for the past month. The general physical examination revealed palpable lymph nodes in the left axilla. Axial CT sections at the level of the vocal cords demonstrated dilation of the right laryngeal ventricle and mild anteromedial deviation of the ipsilateral arytenoid cartilage ("sail" sign) suggestive of a right vocal cord palsy. Contrast-enhanced CT chest revealed right paratracheal, right hilar, and subcarinal lymph nodes with areas of central necrosis. She was started on anti-tubercular therapy and her voice completely improved after three months of treatment. The "Sail" sign on axial CT scans is a useful radiological sign for diagnosing unilateral vocal cord palsy. Rarely, compression of the recurrent laryngeal nerve by enlarged mediastinal lymph nodes due to tuberculosis can present with unilateral vocal cord palsy as the sole manifestation in adults.

Morvan's syndrome: An unusual presentation of a solid pseudopapillary pancreatic tumor.

Morvan's syndrome is a rare anti-contactin-associated protein-like 2 (CASPR2) antibody-mediated autoimmune disorder. The clinical features of this syndrome include muscular twitching, insomnia, dysautonomia, peripheral nerve hyperexcitability, and fluctuating delirium. An underlying tumor is commonly found among Morvan's syndrome cases, with thymoma being the most frequent association. We describe an unusual case of a 39-year-old female with excruciating bilateral leg pain, insomnia, hyperhidrosis, peripheral nerve hyperexcitability, serum anti-CASPR2 antibody positivity, and a solid pseudopapillary tumor of the pancreas on histopathology. Furthermore, the patient's symptoms improved after receiving intravenous immunoglobulin (0.4 g/kg per day for 5 days). To the best of our knowledge, this is the first case of Morvan syndrome associated with a solid pseudopapillary pancreatic tumor to be reported in the literature to date. Our case adds to the spectrum of malignancies that are associated with Morvan's syndrome. The recognition of this rare syndrome and its various associations are important for the neurologist, as it is a potentially treatable condition.

The Assessment of Health-Related Quality of Life in Patients With Chronic Liver Disease: A Single-Center Study.

Aim The aim of this study was to investigate the factors affecting health-related quality of life (HRQOL) in Nepalese patients with chronic liver disease (CLD). Methods In this study, HRQOL was measured with validated Nepali versions of the short-form 36 (SF-36) survey. Socioeconomic factors, etiology, laboratory parameters, disease severity, and self-rated health perceptions on HRQOL were recorded for analysis. Results Sixty CLD patients were enrolled in the study. The following HRQOL scores were obtained: physical functioning (PF) (34.4 ±26.7), role limitation due to physical health (RLPH) (7.5 ±17.8), role limitation due to emotional problems (RLEP) (27.7 ±38.2), energy or fatigue (E/F) (38.5 ±21.5), emotional well-being (EWB) (57.7 ±22.8), social functioning (SF) (55.2 ±23.5), pain (44.8 ±30.3), and general health (GH) (38.2 ±17). Employed status and higher annual family income had a positive impact on HRQOL. Ascites and abnormal upper gastrointestinal endoscopic findings were associated with poor health status perceptions. More severe disease (higher Child-Pugh class) was associated with lower HRQOL scores. A significant negative correlation between the model for end-stage liver disease (MELD) score and HRQOL domains was observed (p: <0.05). Age, gender, religion, education, and duration of the diagnosis of CLD had no effect on HRQOL of CLD patients. Conclusion HRQOL in patients with CLD was lower than that in the general population. Unemployed status, low annual family income, ascites, abnormal upper gastrointestinal endoscopic findings, and higher Child-Pugh class and MELD scores were important factors that adversely affected HRQOL.