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Nutritional Deficiencies
Published in Philip B. Gorelick, Fernando D. Testai, Graeme J. Hankey, Joanna M. Wardlaw, Hankey's Clinical Neurology, 2020
Deepa Bhupali, Fernando D. Testai
Characterized by a spinocerebellar syndrome with peripheral nerve involvement (similar to Friedreich's ataxia): Cerebellar ataxia.Hyporeflexia.Proprioception and vibratory sensory loss with sensory ataxia.Extensor plantar responses.Acanthocytosis.Hemolytic anemia (mainly in premature infants).Retinitis pigmentosa.Specific findings can be seen in association with inherited conditions (Table 17.1).
Lysosomal acid lipase deficiency: Wolman disease/cholesteryl ester storage disease
Published in William L. Nyhan, Georg F. Hoffmann, Aida I. Al-Aqeel, Bruce A. Barshop, Atlas of Inherited Metabolic Diseases, 2020
Anemia is a prominent early feature of the disease [1, 9, 10], usually evident by six weeks. It worsens progressively and may require transfusion. Acanthocytosis has been reported [17]. Thrombocytopenia is not a feature of the disease. Vacuolated lymphocytes or granulocytes (Figure 94.9) may be found in the peripheral blood. The vacuoles are both intracytoplasmic and intranuclear. In many patients, the initial clinical impression is first confirmed by the aspiration of lipid-laden histiocytes from the bone marrow (Figure 94.10). These foam cells are quite similar to those found in Niemann-Pick disease [18], and a number of patients reported as Niemann-Pick disease with adrenal calcifications were probably early examples of Wolman disease. Rarely, phagocytosis of erythrocytes by these cells may be seen [9]. These large, pale, foamy cells may be present in the marrow as early as 40 days. Later, they are present in large numbers and may even be seen in peripheral blood [1]. Electron microscopic examination may reveal vacuolation and granular inclusions in circulating granulocytes; vacuoles may be seen on light microscopy.
Hemolytic Anemia Associated with Red Cell Membrane Defects
Published in Harold R. Schumacher, William A. Rock, Sanford A. Stass, Handbook of Hematologic Pathology, 2019
One in 3000 individuals inherits a dominant inhibitor of the Lutheran blood group, called In(Lu). These patients have greatly suppressed expression of Lutheran antigens, CD44, and other red cell surface molecules. Red cell morphology includes acanthocytosis and poikilocytosis. Hemolysis is not significant.
Unusual gait disorders: a phenomenological approach and classification
Published in Expert Review of Neurotherapeutics, 2019
Vijayashankar Paramanandam, Karlo J. Lizarraga, Derrick Soh, Musleh Algarni, Mohammad Rohani, Alfonso Fasano
The ‘stutter-step gait’ has been described in early and mid-stages of Huntington’s disease (HD) and chorea-acanthocytosis. This gait is characterized by reduced stride length and cadence associated with hesitation (particularly during the heel-off terminal stance phase), hyperflexion of the knee during the mid-stance phase in the ipsilateral or contralateral to the less mobile side, and asymmetric weight bearing during foot-flat or loading response phase. Reduced stride length and hesitation resembling FOG or festination are also a component of this complex gait [67]. Chorea-acanthocytosis patients may have a peculiar ‘rubber man gait’ due to bizarre truncal instability and near falls due to sudden, violent truncal involuntary movements combined with hypotonia [68].
Lessons from chylomicron retention disease: a potential new approach for the treatment of hypercholesterolemia?
Published in Expert Opinion on Orphan Drugs, 2018
Others biological abnormalities may point to the diagnosis of CMRD: Liposoluble vitamins are decreased with a severe and permanent vitamin E deficiency even with supplementation. In contrast, vitamins D and K are normalized easily with oral supplementation. Acanthocytosis on blood film is rare in CMRD, in contrast to ABL and FHBL-1. A transaminitis is frequent and early but not specific, with an elevated transaminases (1.5–3 times normal), associated with normal gamma-glutamyltransferase (GGT), bilirubin and alkaline phosphatase values. An increase of creatinine kinase (1.5–4 times normal) is frequent in CMRD but not in other genetic hypocholesterolemias.