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2.
Neurol India ; 68(2): 368-372, 2020.
Article in English | MEDLINE | ID: mdl-32415012

ABSTRACT

INTRODUCTION: Neurological diseases can be due to direct diseases of the central nervous system (CNS) or peripheral nervous system (PNS) or be a bystander syndrome of systemic diseases. Treatment options depend on the cause. Toxic, metabolic and nutritional, and immune-mediated consequences of clinically occult neoplasms produce a spectrum of neurological diseases, recognition of which has therapeutic and prognostic importance. PATIENTS AND METHODS: Children, as well as adults who presented to the authors in the last 5 years with neurological diseases and later their diseases could be diagnosed or attributed to neoplasms which were occult, were included for the study. OBSERVATION: 28 patients were seen by the authors in the last 5 years with neurological manifestation and hidden tumor. Maximum incidence was in the age of above 60 years followed by the age group of 21-40 years. The commonest neurological presentation was muscle and nerve in adults and seizure in children. DISCUSSION: Short duration, rapid progression, severe weight loss, and poor response to treatment given for nontumor associated neurological syndrome are the red flags which point to the diagnosis. CONCLUSION: Seizures and psychosis formed the commonest features in children, muscle and nerve in adults. Short duration, rapid progression, and resistance to treatment are the markers for possible underlying neoplasm.


Subject(s)
Diagnosis, Differential , Diagnostic Errors , Neoplasms/diagnosis , Nervous System Diseases/diagnosis , Paraneoplastic Syndromes, Nervous System/diagnosis , Adenoma/diagnosis , Adolescent , Adult , Anti-N-Methyl-D-Aspartate Receptor Encephalitis/diagnosis , Ataxia/diagnosis , Carcinoma/diagnosis , Child , Dementia/diagnosis , Female , Ganglioneuroma/diagnosis , Humans , Hypokalemic Periodic Paralysis/diagnosis , Lipoma/diagnosis , Lymphoma, Non-Hodgkin/diagnosis , MERRF Syndrome/diagnosis , Male , Middle Aged , Myoclonic Epilepsy, Juvenile/diagnosis , Neuroblastoma/diagnosis , Opsoclonus-Myoclonus Syndrome/diagnosis , Ovarian Neoplasms/diagnosis , POEMS Syndrome/diagnosis , Pancreatic Neoplasms/diagnosis , Parathyroid Neoplasms/diagnosis , Parkinsonian Disorders/diagnosis , Plasmacytoma/diagnosis , Polymyositis/diagnosis , Stomach Neoplasms/diagnosis , Subacute Combined Degeneration/diagnosis , Teratoma/diagnosis , Thymus Neoplasms/diagnosis , Young Adult
3.
J Pediatr Neurosci ; 13(3): 362-365, 2018.
Article in English | MEDLINE | ID: mdl-30271477

ABSTRACT

Encephalopathy and Myopathy in children of varying ages can be due to variety of causes including Mitochondrial diseases, metabolic diseases like renal tubular acidosis, storage diseases as well as fatty acid oxidation (FAO) disorders. FAO related disorders have variable clinical presentation and manifest in different ages. They may present with hypoglycemia, effort intolerance, multi organ involvement with or without ketonuria. High degree of suspicion and appropriate investigations are mandatory for diagnosis. Here we describe an 11 Year old boy, born to non - consanguineous parents. Presented with exertion induced muscle pain and fatigue of 1year duration, which slowly progressed to severe weakness and vomiting. His reflexes were retained. Therefore metabolic vs inflammatory muscle diseases were considered. Patient had ketonuria with elevated blood levels of medium chain acyl carnitine and long chain acyl carnitine suggestive of MADD. Urine organic acid assessment showed elevated excretion of 2-hydroxyglutarate (2HG), adipate and arabitol. Muscle biopsy showed multiple fine vacuoles on Eosin- hematoxylin stained preparation. Modified Gomori - trichrome stain showed vacuolated fibers with red granular material consistent with ragged red fibers. Oil Red O stains showed vacuolated fibers with 'oil red O' positive material suggesting lipid storage. Above combination of features is consistent of MADD. Genetic evaluation is not done due to financial constraint. Patient was started on high dose riboflavin and carnitine, with which the child became near normal. Our patient is a case of MADD presenting as Reye's syndrome like features and showed excellent response to riboflavin, carnitine, dietary and life style changes. High degree of suspicion is lifesaving.

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