Background Histopathology & Immunohistochemistry Reference

BACKGROUND AND CLINICAL INFORMATION: Head

Summary: This is a rare myopathy. For the cases that have been reported, the patients have middle age onset with a slowly progressive or non-progressive scapuloperoneal syndrome. An autosomal dominant pattern of transmission has been established in some families. Histologically, it is characterized by homogeneous areas with numerous fibers.

HISTOPATHOLOGY AND IMMUNOHISTOCHEMISTRY: Head

Frozen sections: They appear as sharply demarcated oval and subsarcolemmal areas that stains pale pink on HE stain and pale green on Gomori trichrome.

Histochemistry:

· Hyaline bodies are limited strictly to type 1 fibers.

· Hyaline bodies arer not reactive for NADH-TR but they are rimmed by densely reactive material.

· Hyaline bodies are negative for ATPase reaction at pH 9.4 but are reactive after acidic preincubation.

Immunohistochemistry: Immunoreactivites for slow and fast myosin have been documented in different reports.

Electron microscopy: The hyaline bodies are non-membrane bound subsarcolemmal aggregates of amorphous and granular substance of relatively low electron density. On higher magnification, these substances are composed of a mixture of granules, amorphous material, and filaments 13-15 nm in diameter. They are surrounded by normal myofibrils or by walls of a collection of mitochondria and glycogen particles.

REFERENCES: Head

Selcen D, Krueger BR, Engel AG. Familial cardioneuromyopathy with hyaline masses and nemaline rods: a novel phenotype. Ann Neurol. 2002 Feb;51(2):224-34.

Masuzugawa S, Kuzuhara S, Narita Y, Naito Y, Taniguchi A, Ibi T. Autosomal dominant hyaline body myopathy presenting as scapuloperoneal syndrome: clinical features and muscle pathology. Neurology. 1997 Jan;48(1):253-7.

Barohn RJ, Brumback RA, Mendell JR. Hyaline body myopathy. Neuromuscul Disord. 1994 May;4(3):257-62.

Ceuterick C, Martin JJ, Martens C. Hyaline bodies in skeletal muscle of a patient with a mild chronic nonprogressive congenital myopathy. Clin Neuropathol. 1993 Mar-Apr;12(2):79-83.