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Hoffmann's syndrome with unusually long duration: Report on clinical, laboratory and muscle imaging findings in two cases

Two adult men presented with the rare Hoffmann's syndrome (HS). Case 1: A 35-year-old male patient had progressive stiffness of lower limbs of 13 years and generalized muscle hypertrophy and myalgia of 3 years duration. Had periorbital edema, dry skin, generalized muscle hypertrophy and spastic...

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Autores principales: Nalini, Atchayaram, Govindaraju, C., Kalra, Pramila, Kadukar, Prashanth
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Medknow Publications & Media Pvt Ltd 2014
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4090854/
https://www.ncbi.nlm.nih.gov/pubmed/25024579
http://dx.doi.org/10.4103/0972-2327.132643
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author Nalini, Atchayaram
Govindaraju, C.
Kalra, Pramila
Kadukar, Prashanth
author_facet Nalini, Atchayaram
Govindaraju, C.
Kalra, Pramila
Kadukar, Prashanth
author_sort Nalini, Atchayaram
collection PubMed
description Two adult men presented with the rare Hoffmann's syndrome (HS). Case 1: A 35-year-old male patient had progressive stiffness of lower limbs of 13 years and generalized muscle hypertrophy and myalgia of 3 years duration. Had periorbital edema, dry skin, generalized muscle hypertrophy and spastic dysarthria with hoarseness. Muscle power was normal. Jaw jerk and deep tendon reflexes were exaggerated. Case 2: A 24-year-old male patient presented with muscle hypertrophy from childhood, slowness in motor activities and hearing impairment. For 6 months, he had severe muscle pains, cramps and further increase in hypertrophy. He had yellow tinged, dry skin, hoarseness of voice, gross muscle hypertrophy and minimal weakness. Both had markedly elevated serum creatine kinase (CK) levels and high thyroid stimulating hormone, low free triiodothyronine and free thyroxine levels. Levothyroxine treatment demonstrated remarkable reduction in muscle bulk at 2 months in both and no symptoms at 6 months. Magnetic resonance imaging of lower limbs in both cases revealed almost identical features with involvement of the muscles of posterior and adductor compartment of thighs and posterior and lateral compartments of the legs. Differential diagnosis of long duration muscle pseudohypertrophy and elevated CK levels should include HS.
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spelling pubmed-40908542014-07-14 Hoffmann's syndrome with unusually long duration: Report on clinical, laboratory and muscle imaging findings in two cases Nalini, Atchayaram Govindaraju, C. Kalra, Pramila Kadukar, Prashanth Ann Indian Acad Neurol Case Report Two adult men presented with the rare Hoffmann's syndrome (HS). Case 1: A 35-year-old male patient had progressive stiffness of lower limbs of 13 years and generalized muscle hypertrophy and myalgia of 3 years duration. Had periorbital edema, dry skin, generalized muscle hypertrophy and spastic dysarthria with hoarseness. Muscle power was normal. Jaw jerk and deep tendon reflexes were exaggerated. Case 2: A 24-year-old male patient presented with muscle hypertrophy from childhood, slowness in motor activities and hearing impairment. For 6 months, he had severe muscle pains, cramps and further increase in hypertrophy. He had yellow tinged, dry skin, hoarseness of voice, gross muscle hypertrophy and minimal weakness. Both had markedly elevated serum creatine kinase (CK) levels and high thyroid stimulating hormone, low free triiodothyronine and free thyroxine levels. Levothyroxine treatment demonstrated remarkable reduction in muscle bulk at 2 months in both and no symptoms at 6 months. Magnetic resonance imaging of lower limbs in both cases revealed almost identical features with involvement of the muscles of posterior and adductor compartment of thighs and posterior and lateral compartments of the legs. Differential diagnosis of long duration muscle pseudohypertrophy and elevated CK levels should include HS. Medknow Publications & Media Pvt Ltd 2014 /pmc/articles/PMC4090854/ /pubmed/25024579 http://dx.doi.org/10.4103/0972-2327.132643 Text en Copyright: © Annals of Indian Academy of Neurology http://creativecommons.org/licenses/by-nc-sa/3.0 This is an open-access article distributed under the terms of the Creative Commons Attribution-Noncommercial-Share Alike 3.0 Unported, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
Nalini, Atchayaram
Govindaraju, C.
Kalra, Pramila
Kadukar, Prashanth
Hoffmann's syndrome with unusually long duration: Report on clinical, laboratory and muscle imaging findings in two cases
title Hoffmann's syndrome with unusually long duration: Report on clinical, laboratory and muscle imaging findings in two cases
title_full Hoffmann's syndrome with unusually long duration: Report on clinical, laboratory and muscle imaging findings in two cases
title_fullStr Hoffmann's syndrome with unusually long duration: Report on clinical, laboratory and muscle imaging findings in two cases
title_full_unstemmed Hoffmann's syndrome with unusually long duration: Report on clinical, laboratory and muscle imaging findings in two cases
title_short Hoffmann's syndrome with unusually long duration: Report on clinical, laboratory and muscle imaging findings in two cases
title_sort hoffmann's syndrome with unusually long duration: report on clinical, laboratory and muscle imaging findings in two cases
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4090854/
https://www.ncbi.nlm.nih.gov/pubmed/25024579
http://dx.doi.org/10.4103/0972-2327.132643
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