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Biomedical subjects

M Grunnet

Publications and source records attributed to M Grunnet.

25 records · Page 2Linked to original sources
PubMed1980

Holoprosencephaly in a Down syndrome child.

Gross malformation of the central nervous system (CNS) is rare in Down syndrome (DS). To our knowledge we report for the first time the association of trisomy 21 and holoprosencephaly. Because of the low probability of chance concurrence due to unrelated causes, a causal relationship between these two conditions in the patient must be presumed. The anatomic similarity of the holoprosencephalic defect in this infant to that seen in others with autosomal dominant, recessive, sporadic, or syndromal forms of holoprosencephaly, supports the hypothesis that: a) this CNS defect is a causally nonspecific developmental field complex (DFC); b) the increased incidence of such DFC's in the DS represents the result of a nonspecific decrease of developmental homeostasis [Waddington, 1975] due to autosomal aneuploidy.

Abnormalities, Multiple↗
PubMed1980

X-linked lymphoproliferative syndrome registry report.

Immune deficiency, especially to the Epstein-Barr virus, and increased susceptibility to fatal infectious mononucleosis, acquired agammoglobulinemia, and lymphoma are the cardinal features of the X-linked lymphoproliferative syndrome. Since the establishment of the XLP Registry in September, 1978, 59 affected males in seven unrelated kindreds were comprehensively studied. A spectrum of lymphoproliferative phenotypes was observed. Thirty-four patients (57%) died from infectious mononucleosis, eight (14%) had fatal infectious mononucleosis with lymphoma (immunoblastic sarcoma), nine (15%) had depressed immunity following EBV infection, and eight (14%) developed lymphoma. Several patients with XLP lacked EBV antibodies despite infection by EBV. The results of this study suggest that EBV can be an oncogenic agent in patients who are immune deficient with XLP.

Adolescent↗
PubMedDate not supplied

Connatal Pelizaeus-Merzbacher disease: an autosomal recessive form.

An infant female had connatal Pelizaeus-Merzbacher disease with neonatal onset of developmental failure, seizures, nystagmus, visual impairment, abnormal movements, and spasticity. There was nearly complete absence of central myelin with preservation of peripheral myelin. The 17 reported patients with connatal Pelizaeus-Merzbacher disease are summarized. Evidence of autosomal recessive inheritance is provided by our patient, 3 previously described girls, and 1 family with both boys and girls affected equally. This possible form of inheritance is important to consider in genetic counseling.

Brain↗
PubMedDate not supplied

Alzheimer's disease or plaque disease? Two cases at the frontier of a definition.

Atypical dementias confront the adequacy of current diagnostic concepts. The two patients with atypical dementia syndromes described here shared common postmortem features of numerous neocortical neuritic (senile) plaques and microvascular amyloid, sparing of hippocampus and substantia nigra, and the virtual absence of neurofibrillary tangles. Microscopically, the two differed only by the presence of a few subcortical Lewy bodies in case 1. These similar morphologic features were associated with dramatically different clinical presentations. In the first patient, visual hallucinations, Capgras' syndrome, cognitive slowing, myoclonus, parkinsonism, and primitive reflexes evolved over 3 years. Memory and language were relatively spared. In the second, dysphagia, nonfluent aphasia, hypophonia, motor perseveration, and a severe disorder of attention developed during this 18-month illness. At autopsy, an unrecognized colon malignancy was found. Despite high neuritic plaque counts in cortex, neither the clinical nor the pathologic criteria for Alzheimer's disease adequately describe either case. The cases will be examined first as clinical, then as neuropathologic, entities. From this approach, we conclude that a specific clinical dementia syndrome may be expressed by several neuropathologic "diseases" and that a variety of clinical syndromes may represent a single neuropathologic diagnosis. This strategy identifies a conceptual dichotomy between Alzheimer's syndrome and postmortem Alzheimer's disease. Meticulous clinical and neuropathologic observation is essential in advancing an understanding of the relationship between the two.

Aged↗
PubMedDate not supplied

Tubular inclusions in macrophages in the brain of a patient with acute hemorrhagic leukoencephalitis (Weston-Hurst syndrome).

A case history, biopsy findings, and autopsy findings of an unusually long-lasting case of acute hemorrhagic leukoencephalitis in a young woman are presented. Diagnosis by stereotactic biopsy of brain lesions seen on computed tomography and magnetic resonance imaging scans had been attempted previously. On histologic examination the biopsy showed sheets of macrophages, which were found to contain unusual tubular inclusions on electron microscopy. The nature of these inclusions is discussed.

Acute Disease↗
PubMedDate not supplied

Histologic evidence of retinacular nerve injury associated with patellofemoral malalignment.

Patellofemoral malalignment is frequently accompanied by pain that may respond to conservative treatment or lateral retinacular release. Frequently, there is little or no evidence of chondromalacia patellae in these patients. This study presents consistent evidence of nerve damage (demyelination and fibrosis) in the lateral retinaculum of patients with intractable patellofemoral pain requiring lateral retinacular release or realignment of the patellofemoral joint. The changes observed in the retinacular nerves resemble the histopathologic picture of Morton's interdigital neuroma. It is likely that the lateral retinaculum itself is painful in many patients with patellofemoral malalignment.

Humans↗