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PubMed2003

CD44s expression correlated with the International Neuroblastoma Pathology Classification (Shimada system) for neuroblastic tumours.

AIM: CD44 is a cell adhesion molecule that plays an important role in the cascade of metastasis and progression of human malignant tumours. A large family of variants or isoforms, generated by alternative splicing of a single gene, has been reported to be involved in the malignant process by conferring metastatic potential to non-metastatic cells. The objective of this study was to compare the expression of CD44 standard molecule with the International Neuroblastoma Pathology Classification (INPC) for neuroblastic tumours, a histological grading system based on the Shimada system for predicting the clinical outcome in neuroblastic tumours. METHODS: Paraffin blocks of primary neuroblastic tumour were graded according to the INPC system into favourable and unfavourable histological types. Tumour tissues were then analysed with immunostaining using monoclonal antibodies against the CD44 epitope. RESULTS: In this retrospective study, 32 cases of primary neuroblastic tumour were collected. Based on the INPC system, 13 cases (40.6%) had a favourable histology while 19 cases (59.4%) were of unfavourable histology. CD44 standard (CD44s) expression was detected in 69.2% of neuroblastic tumours with favourable histological type while 89.5% of tumours with unfavourable histological type did not express CD44s staining. Statistically, there was significant correlation between morphological grading of neuroblastic tumours based on the INPC and the presence of CD44 staining (Fisher's exact test, P<0.05). CONCLUSION: This study shows that there is a significant correlation between CD44s expression and tumour histology based on the INPC in which CD44s non-expression is correlated with an unfavourable histological type and the expression of CD44s with a favourable type. Therefore, the analysis of CD44s expression should be recommended as an additional biological marker in the initial routine staging of the disease.

Antigens, Neoplasm↗

PubMed2002

Significance of genetic information in risk assessment and individual classification using silicosis as a case model.

Over the last decade the role of genetic data in epidemiological research has expanded considerably. We recently published a case-control study that evaluated the interaction between silica exposure and minor variants in the genes coding for interleukin-1alpha (IL-1alpha), interleukin-1 receptor antagonist (IL-1RA) and tumor necrosis factor alpha (TNFalpha) as risk factors associated with silicosis, a fibrotic lung disease. In contrast, this report uses data generated from these studies to illustrate the utility of genetic information for the purposes of risk assessment and clinical prediction. Specifically, this study will address how, given a known exposure, genetic information affects the characterization of risk groups. Relative operating characteristic (ROC) curves were then used to determine the impact of genetic information on individual classification. Logistic regression modeling procedures were used to estimate the predicted probability of developing silicosis. This probability was then used to construct predicted risk deciles, first for a model with occupational exposure only and then for a model containing occupational exposure and genetic main effects and interactions. Results indicate that the exposure-only model effectively captures an increasing relationship between predicted risk deciles and prevalence of observed silicosis cases. Individuals comprising the highest risk decile were almost four times as likely to have silicosis as opposed to the lowest risk decile. The addition of genetic data, however, substantially improved characterization of risk categories; the proportion of cases in the highest risk decile was almost eight times that in the lowest risk decile. However, the ROC curve and classification analysis demonstrated that the addition of genetic main effects and interactions did not significantly impact on prediction of the individual's case status. These results indicate that genetic information plays a valuable role in effectively characterizing risk groups and mechanisms of disease operating in a substantial proportion of the population. However, in the case of fibrotic lung disease caused by silica exposure, information about the presence or absence of the minor variants of IL-1alpha, IL-1RA and TNFalpha is unlikely to be a useful tool for individual classification.

Aged↗

PubMed2026

RNA sequencing resolves a novel noncanonical splice-region variant in PHKA2 causing glycogen storage disease type IX α2: a case report.

BACKGROUND: Glycogen storage disease type IX α2 (GSD IX α2) is an X-linked hepatic glycogenosis caused by pathogenic variants in PHKA2. Noncanonical splice-region variants located outside the invariant GT/AG dinucleotides pose significant interpretive challenges, as in silico predictions alone are often insufficient for definitive classification. CASE DESCRIPTION: We report a 2.9-year-old boy presenting with short stature, hepatomegaly, markedly elevated aminotransferases, fasting hypoglycemia with ketonuria, hypercholesterolemia, coagulation parameter abnormalities (decreased fibrinogen and prolonged thrombin time), and histological evidence of early hepatic fibrosis as demonstrated by Masson's trichrome staining (portal fibrosis and perisinusoidal fibrosis). Whole-exome sequencing (WES) identified a hemizygous, previously unreported PHKA2 variant [NM_000292.3:c.2517+5G>T, genomic location (GRCh38): NC_000023.11: g.18907895G>T], initially classified as a variant of uncertain significance (VUS) under American College of Medical Genetics and Genomics (ACMG) criteria. RNA sequencing of peripheral blood leukocytes demonstrated predominant exon 22 skipping in 94.2% of informative junction reads, predicting a frameshift and premature termination codon [p.(Gly788Profs*74)] with predicted loss of the C-terminal CBL 2 subdomain. Incorporating this transcript-level evidence, the variant was reclassified as pathogenic (PVS1 + PM2_Supporting + PP4). Following dietary management with uncooked cornstarch supplementation, the patient showed progressive biochemical improvement over a 2.2-year follow-up. CONCLUSIONS: This case expands the mutational spectrum of PHKA2 and demonstrates that RNA sequencing of accessible tissues is a practical and diagnostically informative strategy for resolving noncanonical splice-region variants in pediatric hepatic GSD. Early hepatic fibrosis detected by histological examination before age 3 years underscores the importance of longitudinal hepatic surveillance in GSD IX α2.

Glycogen storage disease type IX α2 (GSD IX ↗

PubMed1977

Palmar crease variants and their clinical significance: a study of newborns at risk.

An analysis of palmar crease variants was carried out in a group of "at risk" newborns, without any evident congenital anomalies. This group consisted of 108 prematures, 74 infants who were small for gestational age, 62 newborns with history of gestational complications, and 46 newborns with a history of intrauterine methadone exposure. A system of classification was developed based on observations of 500 normal newborns as control subjects, 466 normal mothers, and 200 normal children. The palmar crease variants can be divided into four main groups, schematically presented as normal variants, simian crease and its variants, Sydney line and its variants, and another group of unusual variants which do not fit into the other groups. A study of these groups revealed that familial components, race, sex, and age are factors that can influence the expression of palmar crease patterns. There is an increased frequency of abnormal creases in each of the groups of "at risk" newborns. Moreover, there is an apparent association of interrupted transrerse creases and intrauterine methadone exposure.

Adult↗

PubMed1998

[Morphology and molecular biology of malignant soft tissue sarcomas].

Malignant soft tissue tumors are classified and named according to cellular differentiation and thus the non-neoplastic soft tissue they imitate. The topical WHO classification already comprises more than 140 entities and tumor subtypes, but the process of defining new tumor variants will go on. Questions of nomenclature are discussed briefly with laying special emphasis on the non-undisputed concept of malignant fibrous histiocytomas. Without doubt, this diagnosis is made too frequently by which it has become to a collective name for unclassifiable pleomorphic sarcomas. For the time being nobody is able to say whether or not the malignant fibrous histiocytoma will remain an entity. Likely, fibrosarcomas and hemangiopericytomas are defined as exclusion diagnosis, as well. The diagnosis of malignant soft tissue tumors is based on recognizing the cellular line of differentiation. This is frequently possible at light microscopic level, sometimes additional diagnostic methods are required. The most important adjunct method is immunohistochemistry. Because aberrant differentiations and unexpected immunohistochemical reactions are known the use of a panel of antibodies is necessary. In the last years soft tissue tumors has increasingly been characterized by molecular biological methods. The results are of significance for understanding sarcoma pathogenesis and may be used for diagnosis, as well. Chromosome translocations are explained and rhabdomyosarcomas are taken as example for demonstrating the diagnostic significance of molecular biological/cytogenetic findings. Molecular biology may also aid in defining the histopathologic features of an entity as shown for intraabdominal desmoplastic small cell tumors. Eventually, heterogeneity in soft tissue sarcomas is addressed and discussed in view of its importance for diagnosis, classification and therapy as well as for development of sarcoma progression.

Humans↗

PubMed1987

Monoclonal antibodies against the chronic lymphatic leukemia antigen cCLLa: characterization and reactivity.

Monoclonal antibodies (MoAbs) were developed against the cCLLa, a 69-kilodalton leukemia-associated antigen expressed on malignant cells of B-type chronic lymphatic leukemia (B-CLL) and its variants: prolymphocytic (PLL) and hairy cell leukemias (HCL). Two hybridomas yielded approximately 2 and approximately 7.5 mg/mL of IgG2a kappa and IgM kappa, respectively. Monoclonal surface immunoglobulin-bearing cells of all B-CLL patients studied (n = 30) reacted with the MoAbs (r greater than .99) regardless of stage or lymphocyte count. This suggests that the malignant clone in CLL can be identified and its size monitored by using our MoAbs. In contrast, normal B lymphocytes, a large panel of normal, reactive and neoplastic cells, and malignant cell lines failed to react with either MoAb as judged by indirect immunofluorescence and by flow cytometry. Only two patients (one with non-Hodgkin's lymphoma, the other with acute myeloblastic leukemia) exhibited a small cell subset reactive with the MoAbs. cCLLa specificity was suggested by selective target cell reactivity and competitive inhibition-absorption and confirmed by immunoprecipitation. MoAbs IgG2a kappa and IgM kappa appeared to share antigenic determinants and were moderate and avid complement binders inducing 100% and 40% target cell lysis, respectively. cCLLa density on malignant CLL and HCL cells was estimated by equilibrium binding studies using the IgG2a kappa MoAb at 1.7 and 9 X 10(6)/cell, respectively. The restricted expression of the cCLLa and the specificity and cytolytic activity of the anti-cCLLa MoAbs support these antibodies as probes for the classification of lymphoproliferative diseases and for the specific diagnosis and treatment of B-CLL and its variants.

Antibodies, Monoclonal↗

PubMed2003

Pathophysiology of priapism: dysregulatory erection physiology thesis.

PURPOSE: While a modest amount of medical literature has been written on the topic of priapism, reports heretofore have focused predominantly on diagnostic and management related aspects of the disorder, providing meager information in regard to its pathophysiology. Accordingly the intent of this review was to explore the etiological and pathogenic factors involved in priapism. MATERIALS AND METHODS: The review entailed an overview of traditional and modern concepts that have been applied to the pathophysiology of priapism and an evaluation of assorted observational and experimental data relating to this field of study. The basic exercise consisted of a literature search using the National Library of Medicine PubMed Services, index referencing provided through the Historical Collection of the Institute of Medicine of The Johns Hopkins University and a survey of abstract proceedings from national meetings relevant to priapism. RESULTS: Insight into the pathophysiology of priapism was derived from a synthesis of evolutionary clinical experiences, mythical beliefs, clinical variants and scientific advances associated with the field of priapism. The results can be summarized. 1) Clinicopathological manifestations of priapism support its basic classification into low flow (ischemic) and high flow (nonischemic) hemodynamic categories, commonly attributed to venous outflow occlusion and unregulated arterial overflow of the penis, respectively. 2) Factual information is insufficient to substantiate etiological roles for urethral infection, bladder distention, failed ejaculation, satyriasis and sleep apnea in priapism. 3) Features of the variant forms of priapism invoke changes in nervous system control of erection and penile vascular homeostasis as having pathogenic roles in the disorder. 4) Clinical therapeutic and basic science investigative studies have revealed various effector mechanisms of the erectile tissue response that may act in dysregulated fashion to subserve priapism. CONCLUSIONS: This exercise suggested that, while priapism is commonly defined in terms of adverse mechanical contexts affecting penile circulation, it may also be viewed at least in some situations as an unbalanced erectile response involving derangements in possibly diverse systems of regulatory control. An integrative scientific approach that encompasses tissular, cellular and molecular levels of investigation may allow further understanding of the pathophysiology of the disorder. Ongoing elucidation of this pathophysiology can be expected to promote the development of new priapism therapies.

Greece, Ancient↗

PubMed2006

Analysis of the 5' noncoding region versus the NS5b region in genotyping hepatitis C virus isolates from blood donors in France.

The 5' noncoding region (5' NCR) of the hepatitis C virus (HCV) has become the standard for genotyping even though several reports show that its use can result in classification errors. The purpose of this study was to perform genotyping based on sequence analysis of the NS5b region in a set of 357 HCV strains isolated from blood donors in France in 2002 and 2003. Results were compared with those previously obtained using 5' NCR analysis, and HCV subtype distribution was reevaluated. Twenty-six of 120 strains (approximately 22%) initially identified as genotype 1b by 5' NCR region sequence analysis were reclassified as genotype 1a by NS5b region sequence analysis. Similarly, 14 of 23 strains (approximately 61%) initially identified as 2a/2c were reclassified as non-2a and non-2c subtypes, and 12 of 22 strains (approximately 45%) initially identified as 4c/4d subtypes were reclassified as non-4c and non-4d subtypes. Sequence analysis of the NS5b region also revealed 5 putative new subtype 2 variants and 2 putative new subtype 4 variants. Although these findings demonstrated full agreement between 5' NCR and NS5b sequence analysis with regard to type classification, genotyping based on phylogenetic analysis of the NS5b region is more accurate for subtype determination than genotyping based on analysis of the 5' NCR. Sequence analysis of the NS5b region is mandatory for epidemiologic studies.

5' Untranslated Regions↗

PubMed1998

Epidermolysis bullosa: case report of appropriate classification of subtype because of an early dental exam.

Epidermolysis bullosa is a unique group of disorders that have blister formation as the common feature. Although there are many variants of this disorder, the subtypes are classified into three groups based upon the level of tissue separation that occurs after mechanical trauma is sustained by the skin. Specific subtypes of EB may have substantial involvement of extracutaneous areas such as the oral cavity and dentition. This case report demonstrates the importance of a dental examination at an early age in order to facilitate the correct subtyping of EB. For the very young patient, correct classification of the subtype of EB may be very important in identifying the severity of clinical features associated with the disorder, and with this information the patient and family may become better aware of potential complications of the disorder such as the dental defects described in this report.

Child, Preschool↗

PubMed2024

Genome-Wide Association Study of Accessory Atrioventricular Pathways.

IMPORTANCE: Understanding of the genetics of accessory atrioventricular pathways (APs) and affiliated arrhythmias is limited. OBJECTIVE: To investigate the genetics of APs and affiliated arrhythmias. DESIGN, SETTING, AND PARTICIPANTS: This was a genome-wide association study (GWAS) of APs, defined by International Classification of Diseases (ICD) codes and/or confirmed by electrophysiology (EP) study. Genome-wide significant AP variants were tested for association with AP-affiliated arrhythmias: paroxysmal supraventricular tachycardia (PSVT), atrial fibrillation (AF), ventricular tachycardia, and cardiac arrest. AP variants were also tested in data on other heart diseases and measures of cardiac physiology. Individuals with APs and control individuals from Iceland (deCODE Genetics), Denmark (Copenhagen Hospital Biobank, Danish Blood Donor Study, and SupraGen/the Danish General Suburban Population Study [GESUS]), the US (Intermountain Healthcare), and the United Kingdom (UK Biobank) were included. Time of phenotype data collection ranged from January 1983 to December 2022. Data were analyzed from August 2022 to January 2024. EXPOSURES: Sequence variants. MAIN OUTCOMES AND MEASURES: Genome-wide significant association of sequence variants with APs. RESULTS: The GWAS included 2310 individuals with APs (median [IQR] age, 43 [28-57] years; 1252 [54.2%] male and 1058 [45.8%] female) and 1 206 977 control individuals (median [IQR] year of birth, 1955 [1945-1970]; 632 888 [52.4%] female and 574 089 [47.6%] male). Of the individuals with APs, 909 had been confirmed in EP study. Three common missense variants were associated with APs, in the genes CCDC141 (p.Arg935Trp: adjusted odds ratio [aOR], 1.37; 95% CI, 1.24-1.52, and p.Ala141Val: aOR, 1.55; 95% CI 1.34-1.80) and SCN10A (p.Ala1073Val: OR, 1.22; 95% CI, 1.15-1.30). The 3 variants associated with PSVT and the SCN10A variant associated with AF, supporting an effect on AP-affiliated arrhythmias. All 3 AP risk alleles were associated with higher heart rate and shorter PR interval, and have reported associations with chronotropic response. CONCLUSIONS AND RELEVANCE: Associations were found between sequence variants and APs that were also associated with risk of PSVT, and thus likely atrioventricular reentrant tachycardia, but had allele-specific associations with AF and conduction disorders. Genetic variation in the modulation of heart rate, chronotropic response, and atrial or atrioventricular node conduction velocity may play a role in the risk of AP-affiliated arrhythmias. Further research into CCDC141 could provide insights for antiarrhythmic therapeutic targeting in the presence of an AP.

Humans↗

PubMed2005

The shifting patterns of HIV encephalitis neuropathology.

HIV infected macrophages infiltrate the nervous system early in the progression of HIV infection, leading to a complex set of neuropathological alterations including HIV encephalitis (HIVE), leukoencephalopathy and vacuolar myelopathy that in turn result in neurodegeneration of selective cellular populations and pathways involved in regulating cognitive and motor functioning. Rapid progress in the development of highly active antiretroviral therapy (HAART) has changed the patterns of HIV related neuropathology and neurological manifestations in the past 10 years. The prevalence of opportunistic infections and central nervous system (CNS) neoplasms has decreased, and some groups have proposed that the frequency of chronic forms of HIVE have been rising as the HAART-treated HIV population ages. Accordingly, clinical manifestations have shifted from severe dementia forms to more subtle minor cognitive impairment, leading to the suggestion of a classification of HIV associated neurological conditions into an inactive form, a chronic variety, and a 'transformed' variant. From a neuropathological point of view these variants might correspond to: a) aggressive forms with severe HIVE and white matter injury, b) extensive perivascular lymphocytic infiltration, c) 'burnt-out' forms of HIVE and d) aging-associated amyloid accumulation with Alzheimer's-like neuropathology. Factors contributing to the emergence of these variants of HIVE include the development of viral resistance, immune reconstitution, anti-retroviral drug toxicity and co-morbid factors (e.g., methamphetamine, HCV). More detailed characterization of these proposed variants of HIVE is important in order to better understand the pathogenesis of HIV-associated neurological damage and to design more effective treatments to protect the nervous system.

AIDS Dementia Complex↗

PubMed2005

An arthroscopic analysis of lateral meniscal variants and a comparison with MRI findings.

We reviewed 164 consecutive cases (158 patients) of arthroscopic examinations for lateral meniscal variants during the last 10 years. We classified lateral meniscal variants into four types by arthroscopic appearance, into six tear patterns by modifying O'Connor's classification, and compared magnetic resonance images (MRI) with arthroscopic findings. Regarding the four types, 131 cases were complete, 25 cases were incomplete, 4 cases were Wrisberg, and 4 cases were ring-shaped meniscus. The six tear patterns were as follows: 33 simple horizontal, 21 combined horizontal, 37 longitudinal, 27 central, 14 complex, and 12 radial tear. Among the 31 knees with a central tear or ring-shaped meniscus, we reviewed 25 MR images. Fifteen (60%) MRI findings were interpreted to represent a bucket-handle (displaced) tear of the normal C-shaped meniscus; 7(28%) MRI findings, a discoid meniscal tear; and the remaining 3(12%) MRI findings, a simple meniscal tear. Moreover, all ring-shaped menisci were interpreted as a displaced lateral meniscal tear on the MRI findings. Twelve patients (13 knees, 7.9%) had osteochondritis dissecans: Nine patients (10 knees) of them had a central tear, two patients (2 knees) of them had a simple horizontal tear of the discoid meniscus, and one patient (1 knee) had a ring-shaped meniscus. Twenty three patients (92.6%) with a central tear of the discoid meniscus did not have any traumatic events. For the differential diagnosis of a central tear or a ring-shaped meniscus from a bucket-handle tear of the normal C-shaped meniscus, we should take a careful history, in particular any traumatic events, we should also consider the possibility of misinterpreting the MR images though these images can provide additional information about associated abnormalities and probe carefully in the arthroscopic operations.

Adolescent↗

PubMed1990

Antigenic homology among coronaviruses related to transmissible gastroenteritis virus.

The antigenic homology of 26 coronavirus isolates, of which 22 were antigenically related to transmissible gastroenteritis virus (TGEV), was determined with 42 monoclonal antibodies. Type, group, and interspecies specific epitopes were defined. Two group specific MAbs distinguished the enteric TGEV isolates from the respiratory variants. An antigenic subsite involved in neutralization was conserved in porcine, feline, and canine coronavirus. The classification of the human coronavirus 229E in a taxonomic cluster distinct from TGEV group is suggested.

Animals↗

PubMed2005

Dynamic treatment model to examine the association between phenotypic drug resistance and duration of HIV viral suppression.

Recent advances in the chemotherapy of HIV infection have been successful in delaying the progression of disease in many patients and are responsible for the decline in HIV-related deaths in the United States. Yet, there are many patients who fail to maintain suppressed viral loads on treatment. Means to extend the utility of currently available drugs include developing improved ways to assess the therapeutic impact of drug-resistant variants. A mathematical model to incorporate the presence of resistance mutations with either primary or secondary classifications is created as a means to explore the association between phenotypic resistance and duration of viral response to therapy. The model, which includes phenotypic and genotypic resistance information for each viral mutant, is presented here with a simplified five-codon genome. However, as additional experimental data and computational resources become available future users may adapt the model to be larger and more accurate. Secondary analyses suggest that, in this model, the resistance phenotypes of the strains with an intermediate number of mutations are the primary determinants of both the total duration of viral suppression with a single treatment and the difference between the durations of suppression of the forward and reverse sequential administrations of two treatments. These findings imply that a model including the resistance phenotype and in vivo response of genotypically-resistant viral strains may lead to a priori prediction of successful anti-HIV drug selection for an individual harboring drug-resistant virus.

Anti-HIV Agents↗

PubMed1989

Histopathology of rare chondroosteoblastic metaplasia in benign lipomas.

Lipomas are frequent findings in the routine work of a pathologist. Variants of lipomas are characterized by an additional component, e.g. capillaries in angiolipomas, but ordinarily their classification does not pose any problem. In contrast to the high incidence of lipomas metaplastic formation of cartilage and bone is only rarely seen. This metaplasia is thought to develop on the basis of myxoid and chondroid change within the lipoma. Mechanical stress, trophic disturbances, the conspicuously frequent contact with periosteum and even still unknown factors may represent the causes for the metaplastic transformations. Four own case reports of chondro- and osteolipomas are described and discussed in view of the gross and microscopic findings.

Adipose Tissue↗

PubMed1985

Simian liver alcohol dehydrogenase: isolation and characterization of isozymes from Macaca nemestrina.

Three classes of hepatic alcohol dehydrogenase (ADH), analogous to those of human liver, are present in Macaca nemestrina. Their functional, compositional, and structural features have been established with isozymes purified to homogeneity by affinity and conventional ion-exchange chromatography. One unusual molecular form of M. nemestrina ADH is electrophoretically indistinguishable as it comigrates with one of the cathodic class I isozymes on starch gel electrophoresis. While its substrate and inhibitor specificity, a high Km value for ethanol (50 mM at pH 10), and lack of binding to the pyrazole affinity resin are consistent with the kinetics of class II ADH, the physiochemical and compositional properties are virtually identical with all other known mammalian alcohol dehydrogenases. The unexpected presence of this previously unknown ADH variant in livers of M. nemestrina demonstrates the need for prudence in assignment of ADH isozymes. Classification based solely on electrophoretic position in starch gels and enzymatic properties of human ADH but without isolation and characterization of individual isozymes may prove insufficient and inadequate. The genetic or phenotypic nature of this isozyme remains to be demonstrated.

Alcohol Dehydrogenase↗

PubMed1991

Infantile hereditary neuropathy with hypomyelination: report of two siblings with different expressivity.

We report the cases of two siblings both affected by inherited sensory-motor neuropathy of a demyelinative nature but with markedly different severity and pathological findings. The clinical, neurophysiological and morphological features in these two cases were consistent with the diagnosis of Hereditary Motor Sensory Neuropathy type 3 (HMSN 3), according to the classification of Dyck, with different expressivity. These results raise the still unsettled question of the phenotypic variants in inherited neuropathies. In fact the most severely affected of our cases had clinical and neurophysiological findings identical to those reported in cases of Congenital Hypomyelination Neuropathy (CHN), but the morphological picture in the sural nerve was inconsistent with this diagnosis. The criteria for the diagnosis and the reported cases of CHN have been reviewed.

Biopsy, Needle↗

PubMed1987

Hereditary sensory neuropathy with neurotrophic keratitis. Description of an autosomal recessive disorder with a selective reduction of small myelinated nerve fibres and a discussion of the classification of the hereditary sensory neuropathies.

A Kashmiri family with 3 members affected by a congenital sensory and autonomic neuropathy and corneal opacification is described. The 3 affected cases were offspring of consanguinous marriages in two generations; autosomal recessive inheritance is therefore probable. Pain and temperature sensation was lost in the limbs with a resulting mutilating acropathy. Sudomotor function was also impaired. Motor function, tendon reflexes, kinaesthetic sensation and sensory nerve action potentials were normal. Sural nerve biopsy showed a selectively reduced small myelinated nerve fibre population. Corneal histology revealed neurotrophic keratitis. The classification of the hereditary sensory and autonomic neuropathies is discussed. This family represents a previously unrecognized variant.

Adult↗