By immunochemically and ultrastructurally identifying cellular components of onion-bulbs (Obs), this study attempts to delineate and classify types of hypertrophic neuropathies which are otherwise obscured by proliferation of the morphologically similar cells forming Obs. Fourteen cases with different forms of chronic localized or generalized hypertrophic neuropathy with Obs were retrospectively studied to include: one Dejerine-Sottas (D-S); two Charcot-Marie-Tooth (CMT); three chronic inflammatory demyelinating polyneuropathy (CIDP); one inflammatory localized hypertrophic mononeuritis (LHM); two perineuriomas (PNM); one traumatic amputation neuroma (TAN); one chronic diabetic neuropathy (CDN); two neurofibromas (NF); and one chronic arsenic polyneuropathy (AsPN). By immunostaining with 7 selected antibodies, we can distinguish at least 4 nosologically distinct types of neuropathy by identifying cellular components of given Obs: 1) primarily Schwann cells with no perineurial cells or macrophages in CMT or D-S, 2) predominantly Schwann cells, activated macrophages and a few fibroblasts in CIDP and LHM, 3) primarily perineurial and a few central Schwann cells with no macrophages in PNM and TAN, and 4) exclusively perineurial cells in the hamartomatous PNM associated with NF.

Adolescent↗

PubMedDate not supplied

Cervical neurenteric cyst associated with Klippel-Feil syndrome: a case report and review of the literature.

A neurenteric cyst of the spine is a rare congenital disorder secondary to alimentary duplication and vertebral malformation. It should, however, be included in the differential diagnosis of an intradural, extramedullary spinal lesion. We present a case of a cervical neurenteric cyst associated with Klippel-Feil syndrome and discuss the clinical, radiologic, histopathologic, immunohistochemical and embryologic characteristics of this disorder.

Adult↗

PubMedDate not supplied

Role of macrophages in onion-bulb formation in localized hypertrophic mononeuritis (LHM).

A unique pathogenetic process for onion-bulb (Ob) formation is disclosed with disclosed with immunohistochemistry and electron microscopy. Biopsy of a swollen segment of tibial nerve from a 42 year-old white female histologically demonstrated diffuse and angiocentric lymphocytic infiltrate in both endo- and perineurium with occasional lymphofollicular formation. Extensive Ob formation of nerve fibers was most striking with or without associated lymphocytes. Axis-cylinders were intact in the majority of Ob. Immunocytochemically, Ob are composed of alternately laminated leaflets of Schwann cells (S100+) and mononuclear macrophage (HAM56+/LeuMl+/Muramidase+) processes but no perineurial (EMA+) cells. Immunohistochemical evidence of antigen presentation (HLA-DR/LN3+/Ia+) was confined to macrophages. Electron microscopy insinuates that intricate interactions between macrophages and Schwann cells exists. Putative inhibition of remyelination along with proliferation of Schwann cells most probably is secondary to the effects of macrophages secretory products. No direct participation of B or T lymphocytes was detected in Ob. Thus, modified macrophages may emit a factor for concomitantly promoting proliferation of Schwann cells and an enzyme for myelin breakdown. In addition, only a few macrophages could be detected in some Ob and could be easily overlooked or misinterpreted as "vacuolated fibroblasts", if no immunohistochemical correlation is made, as modified macrophages making the external leaflets of Ob are more vacuolated.

Adult↗

PubMedDate not supplied

Primary CNS malignant rhabdoid tumor (MRT): report of two cases and review of literature.

Primary CNS rhabdoid tumor is an enigmatic and extremely rare malignant tumor of early childhood, probably embryonal, that has often been histopathologically classified together with rhabdoid tumor of kidneys or other organs in infants. Only four previously documented cases of primary CNS malignant rhabdoid tumor (MRT) were found in the literature. We report two cases of primary CNS MRT with biopsy and complete autopsy findings that share close clinicopathologic, immunohistochemical and ultrastructural similarities between the two. It is concluded that the primary CNS MRT is an entity which is extremely malignant, easily mistaken as a primitive neuroectodermal tumor, and potentially derives from a meningothelial precursor cell which is embryonally equal to the serosal mesothelial precursor cells which surround the kidneys and other organs. Hence, it tends to anatomically occur at the location of abundant meningeal infoldings such as the cerebellar cortex and may be diffuse or multicentric in its meningeal involvement. Furthermore, it may concurrently or multicentrically occur in association with MRT originating from the serosal membrane of other organs, such as the kidney.

Biomarkers, Tumor↗

PubMedDate not supplied

Infantile olivopontocerebellar atrophy with spinal muscular atrophy (infantile OPCA + SMA).

We report three siblings (two boys and girl) with familial (autosomal recessive) infantile olivopontocerebellar atrophy (OPCA) associated with lower motoneuron involvement. Brain autopsy findings in two of the children revealed a multisystem degeneration characterized by marked hypoplasia of phylogenetically new parts of the brain stem (basis pontis and inferior olivary nuclei) associated with hypoplasia of the neocerebellum, both cerebellar and cerebral peduncle. All three infants died before six months of age. The clinical features are characterized by severe hypotonia, areflexia, failure to thrive, respiratory insufficiency in all cases, cardiomyopathy and dislocated hips at birth in two of the three siblings. Extensive serum, urinary and leukocyte enzyme assays in the second infant failed to disclose a specific metabolic abnormality. The diagnosis of OPCA was established prior to death by Magnetic Resonance Imaging (MRI) in the youngest infant. Since OPCA represents a heterogeneous group of diseases, correlation of neuropathologic, clinical, genetic and MRI findings at early stages of evolution becomes crucial in the understanding of the nosology of OPCA and its variants.

Female↗

PubMedDate not supplied

Tuberous sclerosis in the premature infant: a report of a case with immunohistochemistry on the CNS.

Numerous hard cortical nodules, a large subependymal giant-cell astrocytoma and a massive rhabdomyoma were described in a hydropic infant of 31 weeks gestation who lived only four hours. With six other documented cases, tuberous sclerosis in premature infants was reviewed in the hope to pinpoint the early lesions in the CNS and heart. Three premature infants including the present case with tuberous sclerosis presented as hydrops fetalis, and all three had a massive rhabdomyoma. Immunohistochemistry on the CNS lesions disclosed aggregates of bizarre giant cells, which concomitantly expressed epitopes for astroglial, oligodendroglial and neuronal phenotypes in the subpial, cortical, subcortical and subependymal zones. The findings strongly indicate that hamartomatous differentiation of pluripotential germinal neuroglia in the subependymal layer establishes early in the gestational stage and causes aberrant and/or arrested migration towards the cortical surfaces.

Brain↗