Farber disease overlapping with stiff skin syndrome: Expanding the spectrum

Background: Farber Disease (MIM 228000)1 is a rare AR disorder fi rst described by Sidney Farber in 19522. Farber disease is usually recognized by the presence of three symptoms: Painful and progressively deformed joints, nodules under the skin and progressive hoarseness. Other organ systems may also be involved. As with most lysosomal storage diseases, the course of Farber’s Disease is progressive and death typically occurs in infancy. Stiff skin syndrome (SSS) (MIM %184900)1 was fi rst described by Esterly and McKusick as a disorder characterized by thickened and indurated skin of the entire body and limitation of joint mobility with fl exion contractures.Aim of the Study: Diagnosis and clarifi cation of overlapping in the clinicalpresentation of the studied case.Patients and Methods: Clinical report of an atypically presenting Farber case and analyzing the overlapping manifestations between the two syndromes.Results: Histopathological study was the conclusive diagnostic key in ourcase. Conclusion: Recognition of atypical or abortive cases is of practical importance as it may affect counseling or therapeutic decision making. Orodental manifestations were not previously considered but they may be of future diagnostic help.Keywords: Farber, stiff skin, lipogranulomatosis

EEG changes and neuroimaging abnormalities in relevance to severity of autism

Background: Autism is currently viewed as a genetically determined neurodevelopmental disorder although its defi nite underlying etiology remains to be established.Aim of the Study: Our purpose was to assess autism related morphologicalneuroimaging changes of the brain and EEG abnormalities in correlation to the degree of disease severity.Patients and Methods: Seventeen cases with classic autism, 13 males and 4 females were included in the study. Severity of the disease was assessed both clinically and by Childhood Autism Rating Scale (CARS). MRI changes and EEG abnormalities were detected in seven patients, mostly severely and moderately affected.Results: Hypoplasia of cerebellar vermian lobules is the most replicated MRI abnormality in our patients (18%). Periventricular white matter dysmyelination is detected in 12% of studied cases. 29% of the cases have EEG abnormalities. Head circumference above 97th centiles is detected in 18% of cases. The increased head circumference, when in combination with EEG abnormalities, positively correlates with the degree of disease severity. Conclusion: Although, no defi nite correlation could be established between the studied parameters and disease severity, most patients in the present study who exhibited MRI abnormality, EEG changes and/or increased head circumference (H.C) manifested severe form of autism. The absence of correlation may be attributed to lack of statistical power, resulting from small sample size. However, the correlation was not solidly excluded therefore, the recommendation of further neuroradiological evaluation as well as the implementation ofnewer techniques, might help future elucidating the etiology of autism.Keywords: Autism, MRI, EEG, brain development