Neuropathology and Neuromuscular Pathology
The Neuropathology and Neuromuscular Pathology service at Cincinnati Children’s provides comprehensive diagnostic evaluation of central and peripheral nervous system diseases, including a broad spectrum of neuromuscular disorders. We offer expert assessment of brain and spinal cord specimens, as well as specialized interpretation of muscle and nerve biopsies, supporting clinical teams across pediatric neurology, neurosurgery, neuro-oncology, genetics, and neuromuscular medicine.
Collaborative Centers
Our pathologists work closely with the divisions of Neurology, Neurosurgery, and Human Genetics, and are integrated into multidisciplinary teams such as the Comprehensive Neuromuscular Center and the Comprehensive Epilepsy Center. We also participate in collaborative research studies involving neurodevelopmental disorders, metabolic diseases, and pediatric brain tumors.
Consultative Service
Our neuropathology consultative service includes evaluation of brain and spinal cord resections, autopsy brain tissue, and tumors of the central nervous system using morphology, immunohistochemistry, and molecular diagnostics. The neuromuscular pathology service provides expert on-site and referral-based interpretation of muscle and nerve biopsies for patients with suspected neuromuscular disorders. We routinely process specimens obtained within Cincinnati Children’s and welcome referrals from outside institutions, including fresh tissue and previously prepared slides for second opinion or ultrastructural analysis. A portion of each specimen is preserved for potential electron microscopy and/or special biochemical or molecular studies.
Areas of Expertise
- Pediatric brain and spinal cord tumors
- Cortical malformations and epilepsy-related pathology
- Leukodystrophies and demyelinating disorders
- Neurodevelopmental and metabolic encephalopathies
- Inflammatory and infectious neuropathology
- Inflammatory, dystrophic, and metabolic myopathies
- Hereditary and acquired neuropathies
- Electron microscopy for ultrastructural diagnostics
Neuromuscular Pathology
Neuromuscular pathology services offer expert on-site muscle and nerve biopsy interpretation and consultation to physicians in the diagnosis of a wide variety of neuromuscular disorders. We routinely process biopsy samples from the Cincinnati Children's community, and we also welcome specimens obtained at other hospitals / surgical facilities referred to our laboratory for staining and interpretation and / or ultrastructural analysis. Slides from previously prepared samples (specimens that were obtained and processed elsewhere) may likewise be referred for consultation or second opinion.
Nerve Biopsy
Helpful in diagnosis of:
- Vasculitis
- Amyloidosis
- CIDP and other demyelinating diseases
- Hereditary neuropathies
- Other: sarcoidosis, leprosy, toxic neuropathies
Services Offered
- Routine nerve histologic examination and histochemical studies (standard panel: H&E, LFB/PAS, neurofilament, CD68)
- Special studies: additional histochemical and immunohistochemical studies are utilized as indicated (e.g. Congo red, T and B cell markers, etc.)
- We routinely process a small portion of each nerve biopsy for electron microscopy (EM) and nerve tease preparation.
Muscle Biopsy
Helpful in diagnosis of:
- Inflammatory myopathies (polymyositis, dermatomyositis, inclusion body myositis)
- Muscular dystrophies
- Metabolic myopathies
- Mitochondrial myopathies
- Amyloid myopathy
- Congenital myopathies
- Vasculitis
- Infectious / parasitic myopathies
- Denervation
Services Offered
- Routine muscle histologic examination and histochemical studiesd (standard panel: H&E, Gomori trichrome, NADH, ATPase at low and high pH, PAS, Oil red O, SDH, C(OX))
- Additional histochemical stains as indicated: Congo red, myophosphorylase, myoadenylate deaminase
- Immunohistochemical staining is available for workup myositis (MHC class I and II, CD3, CD20, CDS45, and immunofluorescent studiesd as needed) and various muscular dystrophies (Dystrophin N and C- terminals and rod domain), Utrophin, Cavlseolin 3, Sarcoglycans (alpha, beta, delta, and gamma), Dysferlin, Merosin, laminins, A/C, alpha – dystroglycan, collagen VI, and Emerin.
- We routinely fix a small portion of each muscle biopsy in glutaraldehyde in the event electron microscopy (EM) is necessary.
- We will freeze and hold a portion of muscle biopsy at negative 80° C not used for other diagnostic purposes in case additional special biochemical or molecular studies by outside reference laboratory testing, however the submitting clinician is responsible for supplying sufficient muscle sample and billing information, as well as completing any necessary requisition forms.
For more information about our services, contact us.
