Woodhouse-Sakati syndrome in an Indian patient with a novel pathogenic variant.

Woodhouse-Sakati syndrome consists of hypogonadism, diabetes mellitus, alopecia, ECG abnormalities, and dystonia. This condition is caused by the loss of function of the DCAF17 gene. Most of the patients have been reported from Greater Middle Eastern countries. We report a 38 male from southern India who presented with syncope and massive hemoptysis due to ruptured bronchopulmonary collaterals. He also had alopecia, cataracts, recently diagnosed diabetes and hypogonadism. Whole exome sequencing showed a novel homozygous truncating variant in the DCAF17 gene. Despite embolization of the aortopulmonary collaterals, the patient died of recurrent hemoptysis.

Smartphone fundus photography by a physician in medical emergencies: An analytical cross-sectional study of 182 patients.

Background Fundus examination is an integral part of the clinical evaluation of patients with medical emergencies. It is done at the bedside using a portable direct ophthalmoscope. Smartphone fundus photography (SFP) is a novel technique of retinal imaging. We evaluated the use of SFP by a physician in medical emergencies and compared it with direct ophthalmoscopy (DO) findings of the ophthalmologist. Methods We did a prospective study on patients admitted with medical emergencies with an indication for fundus examination. The SFP was done by the physician, and its findings were noted. These were compared with the DO findings of the ophthalmologist. Results Of the 182 patients studied, 111 (61%) had fundus findings by SFP and 95 (52.5%) by DO. Papilloedema (21.4%), haemorrhages (20%) and Roth spots (12.5%) were most common. DO missed early papilloedema and findings in the peripheral retina. Conclusions SFP is as effective as DO, in detecting retinal findings in patients with medical emergencies and can be performed at the bedside by the physician.

Guillain-Barre Syndrome and Antibodies to Arboviruses (Dengue, Chikungunya and Japanese Encephalitis): A Prospective Study of 95 Patients Form a Tertiary Care Centre in Southern India.

Objective: The aim of this study was to detect the presence of IgM antibodies against dengue (DEN), chikungunya (CHIK) and Japanese encephalitis (JE) in the serum and CSF of patients with Guillaine-Barre syndrome (GBS). Methods: GBS patients (>12 years of age) were included after informed consent. Data on history, clinical manifestations, treatment details, and outcome were collected. Serum and CSF were tested for IgM antibodies against DEN, CHIK, and JE. Results: From April 2018 to December 2019, 95 patients were included in this study. Anti-arboviral IgM antibodies were detected in 30 patients (31.5%) (CSF 11, serum 13, both CSF and serum 6). Serum IgM antibody was present in 19 patients (JE 8, DEN 5, CHIK 2, more than 1 virus 4). Of the 66 patients who underwent CSF studies, antibodies were present in 17 (CHIK 14, DEN 1, more than 1 virus 2). Antibody positivity did not affect the outcome of GBS. Conclusion: One-third of the GBS patients had evidence of recent infection by arboviruses. This suggests that DEN, CHIK, and JE could be the inciting event for GBS in endemic regions.

Hypophosphatemic osteosclerosis, hyperostosis, and enthesopathy associated with novel homozygous mutations of DMP1 encoding dentin matrix protein 1 and SPP1 encoding osteopontin: The first digenic SIBLING protein osteopathy?

The SIBLINGs are a subfamily of the secreted calcium-binding phosphoproteins and comprise five small integrin-binding ligand N-linked glycoproteins [dentin matrix protein-1 (DMP1), secreted phosphoprotein-1 (SPP1) also called osteopontin (OPN), integrin-binding sialoprotein (IBSP) also called bone sialoprotein (BSP), matrix extracellular phosphoglycoprotein (MEPE), and dentin sialophosphoprotein (DSPP)]. Each SIBLING has at least one "acidic, serine- and aspartic acid-rich motif" (ASARM) and multiple Ser-x-Glu/pSer sequences that when phosphorylated promote binding of the protein to hydroxyapatite for regulation of biomineralization. Mendelian disorders from loss-of-function mutation(s) of the genes that encode the SIBLINGs thus far involve DSPP causing various autosomal dominant dysplasias of dentin but without skeletal disease, and DMP1 causing autosomal recessive hypophosphatemic rickets, type 1 (ARHR1). No diseases have been reported from gain-of-function mutation(s) of DSPP or DMP1 or from alterations of SPP1, IBSP, or MEPE. Herein, we describe severe hypophosphatemic osteosclerosis and hyperostosis associated with skeletal deformity, short stature, enthesopathy, tooth loss, and high circulating FGF23 levels in a middle-aged man and young woman from an endogamous family living in southern India. Both shared novel homozygous mutations within two genes that encode a SIBLING protein: stop-gain ("nonsense") DMP1 (c.556G>T,p.Glu186Ter) and missense SPP1 (c.769C>T,p.Leu266Phe). The man alone also carried novel heterozygous missense variants within two additional genes that condition mineral homeostasis and are the basis for autosomal recessive disorders: CYP27B1 underlying vitamin D dependent rickets, type 1, and ABCC6 underlying both generalized arterial calcification of infancy, type 2 and pseudoxanthoma elasticum (PXE). By immunochemistry, his bone contained high amounts of OPN, particularly striking surrounding osteocytes. We review how our patients' disorder may represent the first digenic SIBLING protein osteopathy.

Uncommon cause of cirrhosis-A case of Werner syndrome with a novel WRN mutation.

Werner syndrome is a rare progeroid syndrome caused by the WRN gene mutation. It is characterized by a general appearance of premature aging, diabetes mellitus, and atherosclerosis, and an increased risk of malignancies. We report a patient who presented with hematemesis due to cirrhosis of liver and was subsequently diagnosed with Werner syndrome. Further genetic analysis showed a novel mutation in the WRN gene which has not previously been reported. Werner syndrome should be considered for the cases of liver cirrhosis when accompanied by the features of accelerated aging.

Neurological Outcomes Following Suicidal Hanging: A Prospective Study of 101 Patients.

CONTEXT: Survivors of suicidal hanging can have variable neurological outcomes - from complete recovery to irreversible brain damage. Literature on the neurological outcomes in these patients is confined to retrospective studies and case series. Hence, this prospective study was carried out. AIMS: The aim is to study the neurological outcomes in suicidal hanging. SETTINGS AND DESIGN: This was a prospective observational study carried out from July 2014 to July 2016. SUBJECTS AND METHODS: Consecutive patients admitted to the emergency and medicine wards were included in the study. Details of the clinical and radiological findings, course in hospital and at 1 month postdischarge were analyzed. STATISTICAL ANALYSIS USED: Statistical analysis was performed using IBM SPSS advanced statistics 20.0 (SPSS Inc., Chicago, USA). Univariate analysis was performed using Chi-square test for significance and Odd's ratio was calculated. RESULTS: Of the 101 patients, 6 died and 4 had residual neuro deficits. Cervical spine injury was seen in 3 patients. Interestingly, 39 patients could not remember the act of hanging (retrograde amnesia). Hypotension, pulmonary edema, Glasgow coma scale (GCS) score <8 at admission, need for mechanical ventilation, and cerebral edema on plain computed tomography were more in those with amnesia as compared to those with normal memory and these findings were statistically significant. CONCLUSIONS: Majority of patients recovered without any sequelae. Routine imaging of cervical spine may not be warranted in all patients, even in those with poor GCS. Retrograde amnesia might be more common than previously believed and further studies are needed to analyze this peculiar feature.

Abrus precatorius Poisoning: A Retrospective Study of 112 Patients.

Abrus precatorius is a rare but important cause of plant poisoning, especially in tropical countries like India. Most of the published literature on Abrus is limited a few case reports. Hence, we did a retrospective study the clinical features and outcome of Abrus poisoning. Case records of patients admitted to medicine wards during 7 years were included in the study. A total of 112 patients were studied. The majority were females (78%), and most of the patients were between 13 and 30 years (81%). Diarrhea was the most common symptom (66%), and blood in stools was present in (33%). Six patients had died with a mortality rate of (5.35%).

Split-hand/feet malformation in three tamilian families and review of the reports from India.

Split-hand/foot malformation (SHFM) is a rare condition which can be either syndromic or nonsyndromic. We report three unrelated pedigrees, one with autosomal dominant (AD) inheritance and the other two with autosomal recessive (AR) pattern. We also briefly review the published reports from India.

Balint syndrome.

We report a patient who presented with complaints of blindness following stroke and was subsequently diagnosed to have Balint syndrome.

Sclerosterosis (Truswell-Hansen disease).

Sclerosteosis or Truswell-Hansen disease is a rare autosomal recessive disorder characterized by dense bones, tall stature, and syndactyly. Most of the reports are from South Africa. Here we report the first such case from India.

The alien hand sign.

We report a case of alien hand sign in a male with stroke and briefly discuss the pathogenesis of this rare condition symptom.

Acute demyelinating encephalitis due to Abrus precatorius poisoning--complete recovery after steroid therapy.

INTRODUCTION: Poisoning from Abrus precatorius is attributed to a toxalbumin (abrin) that acts by inhibiting protein synthesis and rarely can cause immuno-mediated demyelination. We report a case of abrin poisoning with demyelination. CASE REPORT: A 19-year-old man presented with a history of ingesting crushed Abrus precatorius seeds following a family quarrel. He developed vomiting, abdominal pain, and bloody diarrhea, followed by a seizure and an altered sensorium. Magnetic resonance imaging (MRI) of the brain showed demyelination in the bilateral-medial temporal lobes. The patient was treated with supportive care, and intravenous methylprednisolone followed by oral prednisone, and recovered fully. DISCUSSION: Abrin is an immuno-modulator that may cause immune-mediated demyelination. We report the clinical course of a patient with demyelination after abrin poisoning, treated with corticosteroids, and document his clinical recovery. CONCLUSION: Demyelination is a rare complication of Abrus precatorius poisoning. In our case, the demyelination was demonstrated by MRI. Although our patient appeared to recover completely following methylprednisolone therapy, the suggestion that methylprednisolone or other corticosteroids might be useful in treating this demyelination needs experimental verification and clinical validation before concluding that it is a beneficial therapy.