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.

Iron Deficiency Anemia as a Potential Risk Factor for Unprovoked DVT in Young Patients: A Case Series.

Deep vein thrombosis (DVT) is a serious and potentially life-threatening condition due to the occurrence of pulmonary embolism (PEs) in the acute phase. DVT can be provoked or unprovoked. Provoked DVT can be associated with transient or persistent causes. Iron deficiency anemia (IDA) with reactive thrombocytosis can act as a prothrombotic condition. We present two case reports of lower limb DVT which was associated with moderate anemia. Association between IDA and thrombosis has been reviewed.

A case of Weil's disease presenting as Stevens-Johnson syndrome.

Leptospirosis presents in a biphasic manner: an early leptospiraemic phase and a late immune phase. In its severe form, it presents with multi-organ failure, also known as Weil's disease. Stevens-Johnson syndrome (SJS) is an autoimmune hypersensitive reaction leading to diffuse fluid filled vesicle formation with detachment of skin and mucous membrane. Though SJS is triggered by different infections and drugs, its association with leptospirosis is not frequently reported. Here we present such a case.

A rare case of abdominal cocoon caused by brucellosis.

Brucella is the most common zoonosis in the world and is also included among the neglected endemic zoonoses by the World Health Organization. Its clinical presentation is often vague and it is not frequently suspected. A thorough history of social-economic status and animal exposure is often missed. We present a case of abdominal cocoon in a young patient residing at a dairy farm who tested positive for Brucella serology. Timely diagnosis and management prevented the progression of this debilitating condition to intestinal obstruction.

The study of association of Vitamin B12 deficiency in type 2 diabetes mellitus with and without diabetic nephropathy in North Indian Population.

AIM: Diabetic Mellitus is the chronic metabolic disorder associated with various complications of heart, eyes, nerves, kidney etc. Diabetic Nephropathy is one of the leading causes of death in diabetic patient. We hypothesized that decrease Vitamin B12 levels is associated with Diabetic Nephropathy. Aim of our study is to study the serum Vitamin B12 levels in type 2 diabetes mellitus patients with and without nephropathy. METHODS: Our study population consist of 100 subjects out of which 50 cases of Diabetes Mellitus without Diabetic Nephropathy and 50 cases of Diabetes Mellitus with Diabetic Nephropathy. We measured various routine lab parameters, apart from it, we measured spot urinary albumin to creatinine ratio to assess diabetic nephropathy and in special investigation we measured serum Vitamin B12 by chemiluminesence based immunoassay. RESULT: Serum Vitamin B12 level in the group with nephropathy (181.6±17.6pg/dl) was significantly lower than in the group without nephropathy (286±30.1pg/dl) (p=0.03). CONCLUSION: Our study points towards the decrease levels of serum Vitamin B12 levels associated with the complication of diabetic mellitus such as diabetic nephropathy. So treatment of Vitamin B12 deficiency by supplementing could prevent the development and progression of diabetic nephropathy and improves the overall management of diabetic patient.

Hypomagnesaemia: a modifiable risk factor of diabetic nephropathy.

BACKGROUND: Diabetes mellitus (DM) is a heterogeneous disease characterised by an absolute or relative deficiency of insulin and insulin resistance. Diabetes is occurring at younger age in India. It is estimated that 20% of the type 2 DM patients reach end-stage renal disease (ESRD) during their lifetime. Recently, it has been proposed that hypomagnesaemia is a novel factor implicated in the pathogenesis of diabetic complications. Considering this, a study was designed to estimate the prevalence and association of hypomagnesaemia with diabetic nephropathy in North Indian population. MATERIALS AND METHODS: The investigated clinical group composed of 100 type 2 diabetics, grouped into two, on the basis of presence or absence of diabetic nephropathy with n=50 each. Biochemical investigations including fasting blood sugar (BS-F), blood urea, creatinine, magnesium (Mg), urinary albumin-creatinine ratio (U-A/C ratio) were carried out. Descriptive statistics was applied to described frequency and means. χ2-Test and Student's t-tests were used to analyze associations between categorical and continuous variables, respectively. Pearson's correlation was done to find the association of nephropathy with hypomagnesaemia. RESULTS: We observed that 37% of diabetic patients had hypomagnesaemia (mean=1.40±0.16 mg/dL). There was also a significantly higher prevalence of hypomagnesaemia (52%) in DM nephropathy patients (mean=1.62±0.31 mg/dL) compared to without nephropathy patients (22%, mean=1.86±0.28 mg/dL). Serum magnesium levels were significantly inversely correlated with serum creatinine (r=-0.222, p=0.026) and U-A/C ratio (r=-0.352, p=0.000), and positively correlated with glomerular filtration rate (GFR) (r=0.304, p=0.002). CONCLUSION: We concluded that hypomagnesaemia was significantly associated with higher prevalence of diabetic nephropathy and can be used as a marker for the risk of development of diabetic nephropathy.

The Association of Folic Acid Deficiency and Diabetic Nephropathy in Patients with Type 2 Diabetes Mellitus.

INTRODUCTION: Diabetic Mellitus is the chronic metabolic illness characterised by hyperglycemia and various complications of heart, eyes, nerves, kidney etc. Diabetic Nephropathy is the leading causes of morbidity and mortality in diabetic patient. We hypothesized that decreased serum folic acid levels are associated with Diabetic Nephropathy. MATERIALS AND METHOD: Our study population consist of 100 subjects out of which 50 cases of Diabetes Mellitus are without Diabetic Nephropathy and 50 cases of Diabetes Mellitus with Diabetic Nephropathy. We measured various routine lab parameters, apart from that, we measured spot urinary albumin to creatinine ratio to assess diabetic nephropathy and we used chemiluminesence based immunoassay to measure serum folic acid. RESULT: Serum folic acid in the group with nephropathy was significantly lower than that of the group without nephropathy (4.9 ± 0.4 ng/dl) vs (6.8 ± 0.5 ng/dl) p = 0.05. We found that serum folic acid was negatively correlated with spot urinary albumin ratio and on multivariate logistic regression analysis we found that decrease in folic acid significantly (p < 0.05) increases the chances of diabetes with nephropathy by 19.9 %. CONCLUSION: Our study tilt toward the deficiency of serum folic acid levels in diabetes mellitus patient with nephropathy. So if we would correct folic acid deficiency in diabetic patient then we could prevent the development of various complication associated with diabetes and help in reducing the morbidity and mortality of diabetic patient.

Risk factors associated with attempted suicide : a case control study.

This study was conducted to identify the risk factors associated with attempted suicide among people living in and around Pondicherry. Using a case control study design, 137 consecutive cases of attempted suicide admitted to Jawaharlal Institute of Postgraduate Medical Education and Research, a teaching hospital in Pondicherry and an equal number of controls, matched individually with cases for age and sex, from the relatives and friends of the other patients, were studied. Variables related to socio demographic characteristics, family background, recent stressful life events, physical and psychiatric morbidity were analysed. The strength of association with the risk of attempt was calculated using odds ratio with 95% confidence interval. Odds ratios for the factors identified to be significantly associated with increased risk of suicide attempt were 15.82(95% CI 6.55-40) for unemployment, 3.02 (95%CI 1.78-5.14) for lack of formal education, 3.95 (95% CI 2.02-7.79) for the presence of stressful life events in the last six months, 3.12 (95%CI 1.37-7.24) for suffering from physical disorders and 6.78 (95% CI 2.39-2070) for suffering from idiopathic pain. Significant association was not revealed in respect to marital status, type of family, early parental losses, family history of suicide and presence of psychiatric morbidity.

Reactive arthritis, psoriasiform lesions and protein loosing enteropathy secondary to Strongyloidiasis.

Reactive arthritis is associated with demonstrable infection at a distant site without evidence of sepsis at the affected joint(s). We present a rare case reactive arthritis where no bacterial or chlamydial infections could be established, rather larvae of Strongyloides stercoralis could be demonstrated in the stool and duodenal biopsy. Reactive arthritis, psoriasiform lesions and malabsorption with hypoproteinaemia, responded to successful treatment with antihelminthic drugs. Early recognition and adequate treatment for gastrointestinal infections and infestations before complications is important.

Plasma cell leukemia--a case report.

Plasma cell leukemia, occurring either de novo or in patients with long standing multiple myeloma, is the least common type of plasma cell dyscrasia. Histogenetically plasma cell leukemia is derived from terminally differentiated B cells. It is diagnosed by presence of absolute plasma cell count >2000/cm or >20% circulating plasma cells. Two cases of plasma-cell leukemia are reported here. Clinical spectrum and course of the disease, are discussed. Both cases (of primary plasma cell leukemia) had abrupt onset of disease, poor response to therapy and short survival time. Both presented with fatiguability and weakness. Evidence of organomegaly and radiological and hematological evidence of plasma cell leukemia, with thrombocytopenia and evidence of visceral involvement with leukemic cells, was seen in one case.

Malignant melanoma metastatic to bone marrow.

Bone marrow aspiration and biopsy is a useful means of detecting systemic involvement in patients with non haematological malignancy. Metastases of malignant melanoma may be detected in the bone marrow in a small percentage of patients. Two cases of malignant melanoma, with metastasis to marrow at the time of presentation, are described. In one case, bone marrow was the first site where the malignancy was identified. Subsequent investigations revealed an anal melanoma. In the second case, the patient had widespread dissemination from a tonsillar melanoma to many organs of the body, including bone marrow.

Dapsone in treatment of chronic idiopathic thrombocytopenic purpura in adults.

BACKGROUND: When a patient is steroid-dependant, a currently available strategy in chronic idiopathic thrombocytopenic purpura (ITP) is to follow a trial and error approach with any of the known drugs which has been found effective in the condition. OBJECTIVE: To evaluate the response of chronic ITP to dapsone, an inexpensive drug now reported to be effective in the disease. DESIGN: A controlled trial of abstinence and rechallenge type. SUBJECTS: Eight subjects with chronic ITP. INTERVENTIONS: Phase I - Intake of 100 mg of dapsone daily until response (in form of rise of platelet count in blood), Phase II - Above followed by drug abstinence, minimum for four weeks, and then rechallenge with the drug. MAIN OUTCOME MEASURES: Platelet counts during various phases viz during drug intake, withdrawal and rechallenge. RESULTS: Four (50%) patients responded to treatment. The mean pre-dapsone and post-dapsone platelet counts of blood were 29.6 x 10(9)/l and 142.5 x 10(9)/l respectively during the first phase of trial. The rechallenge was done in five patients following withdrawal of drug and the mean values of platelet count before and after rechallenge were 32.2 x 10(9)/l and 83 x 10(9)/l respectively. There was a remarkable response in two patients; one is now off the drug and the other on a maintenance dose of 50 mg of dapsone daily. CONCLUSION: Dapsone caused significant rise of platelet count in some patients of chronic ITP. It can be tried as an alternative to other second-line drugs in chronic ITP.

Atypical manifestations of typhoid fever.

BACKGROUND: High fever, toxaemia, constipation during first week of fever, complicated by encephalopathy and perforation during third week of fever are the typical manifestations of typhoid fever. However, the classical presentation of typhoid fever has considerably changed now. AIM: To study atypical presentations of typhoid fever. SETTING: A teaching unit of a hospital in South India METHOD: All culture-positive adult patients of typhoid fever admitted over a period of seven years were studied RESULTS: Thirty-two adult patients were admitted. Fifteen (46.9%) patients presented with atypical manifestations. Atypical manifestations observed were burning micturition with normal urine examination (n= 5, 15.6%) diarrhoea in first week (6.2%), encephalopathy in first week (3.1%), isolated hepatomegaly (6.2%), pneumonitis (3.1%) and bone marrow depression (6.2%). Out of 32 Salmonella typhi culture positive patients, 10 (31.3%) patients had multidrug resistant (MDR) strain. Patients with MDR strains had atypical manifestations (5/10=50%) not significantly more often than patients having multidrug sensitive strains (10/22=45.5%) (Z <2). All patients responded to treatment. CONCLUSION: It appears atypical manifestations do not necessarily mean a worse prognosis in typhoid fever. Patients having high fever presenting with pneumonia, early encephalopathy, early diarrhoea or bone marrow depression in a typhoid endemic area, should be suspected for this disease.