Genetically Established Familial Amyloidotic Polyneuropathy from India: Narrating the Diagnostic "Odyssey" and a Mini Review.

CONTEXT: Familial amyloidotic polyneuropathy (FAP) is often misdiagnosed as other neuropathic illnesses. AIM: To highlight the diagnostic "odyssey" in three families of Indian origin with FAP. SETTINGS AND DESIGN: Cross-sectional, hospital-based study. SUBJECTS AND METHODS: Clinical, radiological, and histological features as well as causes for delayed diagnosis were analyzed in genetically confirmed patients with FAP. STATISTICAL ANALYSIS: Descriptive. RESULTS: Age at evaluation ranged from 24 to 42 years and symptom duration from 1 to 10 years. Referral diagnoses included: (i) in patients 1 and 2-familial dysautonomia, Shy-Drager syndrome, and spino-cerebellar ataxia with seizures, (ii) in patient 3-chronic inflammatory demyelinating polyradiculoneuropathy, and (iii) in patient 4-porphyria. In addition, patients 1 and 2 developed leptomeningeal involvement that was mistaken for tubercular meningitis. Reasons for missed diagnosis included: clinician's lack of awareness, not paying sufficient attention to family history, presence of laboratory distractors such as elevated urinary porphyrins, lack of meticulous search for amyloid in the biopsy, and not performing specific stain for amyloid viz. Congo red. Evidence of amyloid in histological studies of nerve and skin supported by genetic variations in transthyretin gene clinched the diagnosis. The variants identified in our cohort included p.Gly73Glu, p.Val71Ala, and p.Val50Met. CONCLUSION: Lack of awareness and meticulous work-up by clinicians and pathologists contributed to delayed diagnosis of FAP. It is important to establish an accurate diagnosis as these patients may be candidates for upcoming therapies.

Systemic Sclerosis: A Clinical Analysis of Foot Findings in 52 Cases.

INTRODUCTION: The diagnosis of systemic sclerosis is mostly clinical and is identified by the various cutaneous changes. The cutaneous changes in systemic sclerosis are already well established and supported by a large number of studies and textbooks. Very few literatures describe foot findings in patients with systemic sclerosis. This study was aimed at identifying the various changes in plantar aspect of foot of patients with systemic sclerosis. METHODS: All patients diagnosed with systemic sclerosis were recruited. Apart from clinical examination, X - ray of both feet was done in all the patients. RESULTS: A total of 52 patients were recruited in the study period. Most of the patients (86.54%) were females and the mean age at presentation was 34.19 years. A history of Raynaud's phenomenon was present in 47(90.38%) patients. The foot findings were digital pitted scars in 44(84.61%) patients, macular hyperpigmentation in 40(76.92%) patients and corns in weight bearing areas were found in 40 (76.92%) cases. CONCLUSIONS: In our study corn was a common finding in the foot of patients of systemic sclerosis which has not been routinely documented.

Smokeless Tobacco and Stroke - A Clinico-epidemiological Follow-up Study in A Tertiary Care Hospital.

INTRODUCTION: Among the modifiable risk factors for stroke, tobacco smoking is well recognized. In some studies the use of Smokeless Tobacco (ST) has also been contributed as a risk factor for ischemic stroke. Use of ST is very common in South-East Asia. The form of ST varies according to the geographical and cultural variation. AIM: To study the various clinical symptoms and radiological findings of stroke due to different types of ST. MATERIALS AND METHODS: This was a prospective hospital based study carried out over a period of 2 years. All the cases within age group of 16 - 60 years and with a clinical and radiological diagnosis of acute stroke were included in the study. The Fagerström Test for Nicotine Dependence for ST of more than 6 was taken as the inclusion criteria. Patients having other addictions like smoked tobacco, alcohol, etc., and with important risk factors like hypertension, diabetes, dyslipidemia were excluded. The cases were extensively investigated and followed up for at least 6 months. Analysis was done using the Statistical Package for Social Sciences (SPSS- version 16.0). Descriptive statistics like percentage, mean were used wherever appropriate. RESULTS: During a period of 2 years, a total of 54 patients were studied. Forty two (77.7%) were males and 12(22.3%) were females. The mean age at presentation was 42.72(± 8.6) years and among all 96.3% patients were diagnosed as ischemic stroke. Among ST, pan was most commonly used in 21(38.9%) patients with an average of 14.6(±3.27) years of addiction. Hemiplegia was the predominant symptom on presentation (46, 85.2%). According to Oxfordshire Stroke Classification, partial anterior circulation infarct was most common in 20(38.4%). The mean Modified Rankin scale after 5 days of hospital stay was 3.83(±1.03) and after 6 months of follow-up was 2.1(±0.8). Patients were counseled for deaddiction and after 6 months follow-up 48(88.8%) patients had quit ST. CONCLUSION: ST is an important etiological factor for young ischemic stroke. This is the first study depicting clinical symptomatology of ST addicted ischemic stroke patients from India. Considering the increasing prevalence of ST use in south-east Asia, further long term studies are needed from this region.