Autopsy of a child with Spinal muscular atrophy Type I (Werdnig-Hoffmann disease)

Spinal muscular atrophy (SMA) is a heritable neuromuscular disorder which encompasses a large group of genetic disorders characterized by slowly progressive degeneration of lower motor neurons. The mutation is seen in the SMN1 gene mapped on chromosome 5. Depending on the age of the onset and the degree of severity, SMA has three subtypes. We discuss the autopsy findings in a case of Type 1 SMA also known by the name Werdnig-Hoffmann disease, to highlight the primary changes in the spinal cord, and skeletal muscle with association changes in the liver and terminal respiratory complications.

Keywords
Gliosis; microvesicular steatosis; neurogenic atrophy; spinal muscular atrophy type I

Authorship

Manoj Gopal Madakshira

Post Graduate Institute of Medical Education and Research, Department of Histopathology. Chandigarh, India.Post Graduate Institute of Medical Education and ResearchIndiaChandigarh, IndiaPost Graduate Institute of Medical Education and Research, Department of Histopathology. Chandigarh, India.

https://orcid.org/0000-0002-7056-5096

Sonal Singla

Post Graduate Institute of Medical Education and Research, Department of Pathology. Chandigarh, India.Post Graduate Institute of Medical Education and ResearchIndiaChandigarh, IndiaPost Graduate Institute of Medical Education and Research, Department of Pathology. Chandigarh, India.

https://orcid.org/0000-0002-7237-1287

Kirti Gupta

https://orcid.org/0000-0002-9999-3203

Sayeeda Zahan

Post Graduate Institute of Medical Education and Research, Department of Paediatrics. Chandigarh, India.Post Graduate Institute of Medical Education and ResearchIndiaChandigarh, IndiaPost Graduate Institute of Medical Education and Research, Department of Paediatrics. Chandigarh, India.

https://orcid.org/0000-0003-2959-7704

Pradip Paria

Post Graduate Institute of Medical Education and Research, Department of Paediatric Neurology. Chandigarh, India.Post Graduate Institute of Medical Education and ResearchIndiaChandigarh, IndiaPost Graduate Institute of Medical Education and Research, Department of Paediatric Neurology. Chandigarh, India.

https://orcid.org/0000-0003-3944-7734

Jitendra Kumar Sahu

https://orcid.org/0000-0001-5194-9951

Authors’ contributions: Madakshira MG, Singla S and Gupta K were involved in conducting the autopsy and analysing the autopsy findings. Zahan S, Paria P and Sahu JK actively participated in the ante-mortem clinical management of the child and counselling of the parents. Madakshira MG and Gupta K were involved in preparation of the manuscript. Singla S, Zahan S, Paria P and Sahu JK reviewed and approved the final manuscript.

Conflict of interest: None

Correspondence Kirti Gupta Department of Histopathology - Post Graduate Institute of Medical Education and Research Research Block A, 5th Floor, Sector 12 – Chandigarh – India 160012 Phone: +91 946 332 0566 drkirtigupta@yahoo.co.in

SCIMAGO INSTITUTIONS RANKINGS

Figures

Figures (4)

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Figure 1
Photomicrograph of the deltoid muscle shows group atrophy of muscle fibers in the background of relatively preserved and apparently hypertrophic muscle fibers (H&E, 200x).

Thumbnail

Figure 2
A – Gross view of the dissected spinal cord. B, C, D and E are photomicrographs of the spinal cord; B – Transverse section from the spinal cord at the thoracic level without evidence of infarct or inflammation with the rectangle denoting the ventral horn site on one side (H&E, 20x); C – Section from the area of ventral horn shows degenerated anterior motor neurons with pyknotic nuclei(H&E, 200x); D – Sections from the area of ventral horn shows swollen and pale neurons with loss of Nissl substance (H&E, 200x); E – Neu N (Clone EPR12763, 1:1000 dilution, DAKO) highlights reduced density of neurons in the ventral horn of spinal cord (200x).

Thumbnail

Figure 3
Photomicrographs of the Lung (A and B). A – Dense infiltration of alveolar spaces by polymorphs (H&E, 200x); B – Alveolar ducts lined by dense eosinophilic hyaline membrane (H&E, 200x). Photomicrographs of the liver (C and D); C – Panlobular microvesicular steatosis (H&E, 40x); D – Absence of fibrosis and accentuates the panacinar microvesicular steatosis (Masson Trichrome, 100x).

Thumbnail

Figure 4
The graphical representation of the sample run on MPLA platform shows zero copies of exons 7 and 8 of SMN1 gene (black arrows) and three copies of (1.5 x 2 copies) of exons 7 and 8 of SMN2 gene (white arrows).

Figure 1 Photomicrograph of the deltoid muscle shows group atrophy of muscle fibers in the background of relatively preserved and apparently hypertrophic muscle fibers (H&E, 200x).

Figure 2 A – Gross view of the dissected spinal cord. B, C, D and E are photomicrographs of the spinal cord; B – Transverse section from the spinal cord at the thoracic level without evidence of infarct or inflammation with the rectangle denoting the ventral horn site on one side (H&E, 20x); C – Section from the area of ventral horn shows degenerated anterior motor neurons with pyknotic nuclei(H&E, 200x); D – Sections from the area of ventral horn shows swollen and pale neurons with loss of Nissl substance (H&E, 200x); E – Neu N (Clone EPR12763, 1:1000 dilution, DAKO) highlights reduced density of neurons in the ventral horn of spinal cord (200x).

Figure 3 Photomicrographs of the Lung (A and B). A – Dense infiltration of alveolar spaces by polymorphs (H&E, 200x); B – Alveolar ducts lined by dense eosinophilic hyaline membrane (H&E, 200x). Photomicrographs of the liver (C and D); C – Panlobular microvesicular steatosis (H&E, 40x); D – Absence of fibrosis and accentuates the panacinar microvesicular steatosis (Masson Trichrome, 100x).

Figure 4 The graphical representation of the sample run on MPLA platform shows zero copies of exons 7 and 8 of SMN1 gene (black arrows) and three copies of (1.5 x 2 copies) of exons 7 and 8 of SMN2 gene (white arrows).

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E-mail: autopsy.hu@gmail.com

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Autopsy of a child with Spinal muscular atrophy Type I (Werdnig-Hoffmann disease)

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[1] Authors’ contributions: Madakshira MG, Singla S and Gupta K were involved in conducting the autopsy and analysing the autopsy findings. Zahan S, Paria P and Sahu JK actively participated in the ante-mortem clinical management of the child and counselling of the parents. Madakshira MG and Gupta K were involved in preparation of the manuscript. Singla S, Zahan S, Paria P and Sahu JK reviewed and approved the final manuscript.