ABSTRACT
Parry-Romberg syndrome (PRS) is a progressive facial hemiatrophy often associated with severe epilepsy. Although an immune-mediated vasculitic pathogenesis is widely assumed, no CNS-specific autoantibody has been described so far. A 2-year-old boy was admitted for a status epilepticus preceded by fever, restlessness, insomnia, and left facial rash. Cerebrospinal fluid was positive for glutamic acid decarboxylase (GAD)-antibodies. Brain MRI revealed FLAIR hyperintensities on left mediotemporal areas. He was successfully treated with intravenous methylprednisolone. One month later, seizures and facial rash reappeared and steroids were satisfactorily repeated. However, left hemifacial rash reappeared 5 months later, slowly followed by sclerotic skin lesions on frontal scalp and hemifacial sub-atrophy, leading to a diagnosis of PRS. Three years later, and despite chronic immunosuppression, new MRI lesions on left white matter are seen and left hemifacial atrophy has progressed. For the first time, we describe GAD autoantibodies in a PRS patient with epileptic encephalopathy. Epileptic syndromes with GAD autoantibodies are frequently described though with a questionable pathogenic significance. Given the clinical and MRI similarities of PRS with both Morphea and Rasmussen's encephalitis, we suggest that, in our patient, the initial facial skin vasculitis spread into CNS vessels through perforating arteries, inducing neuronal MHC-class I presentation of GAD epitopes, ultimately causing CD8-mediated neuronal cytotoxicity and the epileptic encephalopathy. GAD autoantibodies might represent the missing pathophysiological link between PRS and neuropsychiatric manifestations.
Subject(s)
Autoantibodies/immunology , Epilepsy , Facial Hemiatrophy , Glutamate Decarboxylase/immunology , Child, Preschool , Epilepsy/diagnosis , Epilepsy/immunology , Epilepsy/pathology , Epilepsy/physiopathology , Facial Hemiatrophy/diagnosis , Facial Hemiatrophy/immunology , Facial Hemiatrophy/pathology , Humans , Magnetic Resonance Imaging , MaleSubject(s)
Facial Dermatoses/diagnosis , Facial Hemiatrophy/diagnosis , Scleroderma, Localized/diagnosis , Adolescent , Adult , Aged , Antibodies, Antinuclear/blood , Antibodies, Antinuclear/immunology , Biomarkers/blood , Child , Child, Preschool , Cross-Sectional Studies , Disease Progression , Facial Dermatoses/diagnostic imaging , Facial Dermatoses/immunology , Facial Dermatoses/pathology , Facial Hemiatrophy/diagnostic imaging , Facial Hemiatrophy/immunology , Facial Hemiatrophy/pathology , Female , Germany , Humans , Infant , Magnetic Resonance Imaging , Male , Middle Aged , Retrospective Studies , Scleroderma, Localized/diagnostic imaging , Scleroderma, Localized/immunology , Scleroderma, Localized/pathology , Serologic Tests , Skin/pathology , Tomography, X-Ray Computed , Young AdultABSTRACT
BACKGROUND: Progressive hemifacial atrophy or Parry-Romberg Syndrome (PRS) is a rare, acquired, progressive dysplasia of subcutaneous tissue and bone characterized by unilateral facial involvement. Its etiology is unknown, but theories about its pathogenesis include infectious, degenerative, autoimmune, and traumatic causes among others. The causal relationship of PRS and linear morphea en coup de sabre (LMCS) with Borrelia burgdorferi infection remains controversial. Our goal was to serologically determine anti-B. burgdorferi antibodies in patients diagnosed with PRS and LMCS to establish a possible association as a causative agent. METHODS: We conducted a serology study with patients belonging to a group of 21 individuals diagnosed with PRS, six with LMCS, and 21 matched controls. Anti-Borrelia IgG antibodies were determined by ELISA. A descriptive statistical analysis and Fischer's exact test were done. RESULTS: In serological tests, only two cases had borderline values and were further analyzed by Western blot with non-confirmatory results. For both the PRS and LMCS group, the association test was not significant, suggesting a lack of association between PRS or LMCS and the presence of anti-Borrelia antibodies. CONCLUSION: In Mexico there are no previous studies on Borrelia infection and its relationship between PRS or LMCS. Our result showed a lack of association of either clinical entities with anti-Borrelia-antibodies. Former reports of this association may suggest coincidental findings without causal relationship.
Subject(s)
Antibodies, Bacterial/blood , Borrelia burgdorferi/immunology , Facial Hemiatrophy/immunology , Immunoglobulin G/blood , Scleroderma, Localized/immunology , Adolescent , Adult , Aged , Case-Control Studies , Child , Facial Hemiatrophy/epidemiology , Facial Hemiatrophy/microbiology , Female , Humans , Lyme Disease/complications , Male , Mexico/epidemiology , Middle Aged , Scleroderma, Localized/epidemiology , Scleroderma, Localized/microbiology , Seroepidemiologic Studies , Young AdultABSTRACT
La Atrofia Hemifacial Progresiva (AHP) o Síndrome Parry Romberg, es una enfermedad degenerativa rara, caracterizada por una lenta y progresiva atrofia facial unilateral que afecta al tejido celular subcutáneo, cartílago, tejido graso y estructuras óseas subyacentes, que frecuentemente se solapa con una condición conocida como esclerodermia lineal en corte de sable. Hasta donde se conoce no se ha reportado en la literatura la asociación de este síndrome a algún tipo de inmunodeficiencia. Se presenta el caso de un niño de 5 años con AHP, con historia de procesos infecciosos recurrentes, algunos graves, desde que tenía 7 meses de nacido. En el estudio inmunológico se observó la presencia de anticuerpos antinucleares con patrón homogéneo y de anticuerpos anti-DNA de doble cadena. La cuantificación de las subpoblaciones linfocitarias mostró una disminución de los valores de células T/CD3+ y T/CD4+, con valor normal de células B/CD19+. Se diagnosticó una inmunodeficiencia de células T. El hallazgo de una inmunodeficiencia celular en un paciente con AHP es expresión de la gran variabilidad clínica de esta enfermedad y de la importancia que tiene su diagnóstico temprano(AU)
The progressive hemifacial atrophy (AHP) or Parry Romberg syndrome, is a rare degenerative disease, characterized by slowly progressive unilateral facial atrophy involving the subcutaneous tissue, cartilage, fat tissue and underlying bone structures, which often overlaps with a condition known as linear scleroderma en coup of sabre. To our knowledge has not been reported the association between immunodeficiency and this syndrome. We report the case of a child of 5 years with AHP, with a history of recurrent infectious processes, some serious, since he was 7 months old. The immunological study showed T cell immunodeficiency, lymphocyte subpopulations showed T/CD4 T/CD3 + cells values decreased and normal value B/CD19 + cells. The presence of antinuclear homogeneous pattern and anti-dsDNA antibodies confirm de autoimmune disorders described in these patients. The cellular immunodeficiency with AHP is an expression of great clinical variability of this disease and the importance of early diagnosis(AU)
Subject(s)
Humans , Male , Child, Preschool , Facial Hemiatrophy/complications , Facial Hemiatrophy/immunology , T-Lymphocytes/immunologyABSTRACT
La Atrofia Hemifacial Progresiva (AHP) o Síndrome Parry Romberg, es una enfermedad degenerativa rara, caracterizada por una lenta y progresiva atrofia facial unilateral que afecta al tejido celular subcutáneo, cartílago, tejido graso y estructuras óseas subyacentes, que frecuentemente se solapa con una condición conocida como esclerodermia lineal en corte de sable. Hasta donde se conoce no se ha reportado en la literatura la asociación de este síndrome a algún tipo de inmunodeficiencia. Se presenta el caso de un niño de 5 años con AHP, con historia de procesos infecciosos recurrentes, algunos graves, desde que tenía 7 meses de nacido. En el estudio inmunológico se observó la presencia de anticuerpos antinucleares con patrón homogéneo y de anticuerpos anti-DNA de doble cadena. La cuantificación de las subpoblaciones linfocitarias mostró una disminución de los valores de células T/CD3+ y T/CD4+, con valor normal de células B/CD19+. Se diagnosticó una inmunodeficiencia de células T. El hallazgo de una inmunodeficiencia celular en un paciente con AHP es expresión de la gran variabilidad clínica de esta enfermedad y de la importancia que tiene su diagnóstico temprano
The progressive hemifacial atrophy (AHP) or Parry Romberg syndrome, is a rare degenerative disease, characterized by slowly progressive unilateral facial atrophy involving the subcutaneous tissue, cartilage, fat tissue and underlying bone structures, which often overlaps with a condition known as linear scleroderma en coup of sabre. To our knowledge has not been reported the association between immunodeficiency and this syndrome. We report the case of a child of 5 years with AHP, with a history of recurrent infectious processes, some serious, since he was 7 months old. The immunological study showed T cell immunodeficiency, lymphocyte subpopulations showed T/CD4 T/CD3 + cells values decreased and normal value B/CD19 + cells. The presence of antinuclear homogeneous pattern and anti-dsDNA antibodies confirm de autoimmune disorders described in these patients. The cellular immunodeficiency with AHP is an expression of great clinical variability of this disease and the importance of early diagnosis
Subject(s)
Humans , Male , Child, Preschool , Facial Hemiatrophy/complications , Facial Hemiatrophy/immunology , T-Lymphocytes/immunologySubject(s)
Brain Diseases/complications , Facial Hemiatrophy/complications , Tremor/complications , Aged, 80 and over , Brain Diseases/diagnosis , Brain Diseases/immunology , Facial Hemiatrophy/diagnosis , Facial Hemiatrophy/immunology , Female , Humans , Magnetic Resonance Imaging , Oligoclonal Bands/metabolism , Tremor/diagnosis , Tremor/immunologyABSTRACT
We present one patient with Parry Romberg syndrome and another with linear scleroderma in coup de sabre, with focal neurologic deficits and intractable seizures arising from the hemisphere ipsilateral to the cutaneous lesion. Brain MRI showed progressive hemispheric atrophy. Pathology after functional hemispherectomy showed chronic inflammatory features suggestive of Rasmussen encephalitis.
Subject(s)
Encephalitis/complications , Epilepsy/complications , Facial Hemiatrophy/complications , Scleroderma, Limited/complications , Telencephalon/physiopathology , Adult , Age of Onset , Atrophy/immunology , Atrophy/pathology , Atrophy/physiopathology , Autoimmune Diseases/physiopathology , Child , Encephalitis/immunology , Encephalitis/physiopathology , Epilepsies, Partial/complications , Epilepsies, Partial/immunology , Epilepsies, Partial/physiopathology , Epilepsy/immunology , Epilepsy/physiopathology , Facial Hemiatrophy/immunology , Facial Hemiatrophy/physiopathology , Female , Hemispherectomy , Humans , Immunosuppressive Agents/therapeutic use , Magnetic Resonance Imaging , Male , Scleroderma, Limited/immunology , Scleroderma, Limited/physiopathology , Telencephalon/immunology , Telencephalon/pathology , Treatment OutcomeSubject(s)
Antibodies, Bacterial/blood , Borrelia burgdorferi/immunology , Facial Hemiatrophy/complications , Lyme Disease/complications , Molecular Mimicry/immunology , Scleroderma, Localized/complications , Bacterial Proteins/blood , Borrelia burgdorferi/isolation & purification , Child , Cytokines/blood , Facial Hemiatrophy/immunology , Facial Hemiatrophy/pathology , Female , Humans , Immunoblotting/methods , Lyme Disease/immunology , Lyme Disease/pathology , Scleroderma, Localized/immunology , Scleroderma, Localized/pathology , Serologic TestsABSTRACT
BACKGROUND: A variety of infectious and autoimmune diseases are described in association with pupillotonia. To our knowledge there is only one report on pupillotonia associated with hemiatrophia faciei. We describe another patient with this rare association. The aim is to investigate possible associations between both diseases. PATIENT: A twenty five-year-old male patient with hemiatrophia faciei, epilepsy and pupillotonia of the right eye since his twelfth birthday was presented for the first time at the age of fourteen at our institution. The patient underwent a complete neurological and paediatric as well as otolaryngological investigation; there was also an investigation by the internist. The patient also underwent a complete serological investigation for infectious and autoimmune disorders as well as an investigation of the local and systemic vascular reactivity by the "Ocular cold pressor test". The follow-up time is 11 years. RESULTS: The clinical picture of our patient was an association of hemiatrophia faciei, epilepsy and pupillotonia. There was no evidence of a local hyperactivity of the sympathetic nervous system. The serological investigation showed an elevated value of antinuclear antibodies. CONCLUSIONS: We assume that in our case the pupillotonia as well as the hemiatrophia faciei and the epilepsy is caused by a common autoimmune factor. All other aetiologies for these three diseases were excluded. Furthermore, the occurrence of pupillotonia, hemiatrophia faciei and epilepsy was simultaneous.
Subject(s)
Autoimmune Diseases/diagnosis , Facial Hemiatrophy/diagnosis , Tonic Pupil/diagnosis , Adolescent , Adult , Antibodies, Antinuclear/blood , Autoimmune Diseases/immunology , Child , Diagnosis, Differential , Epilepsy, Complex Partial/diagnosis , Epilepsy, Complex Partial/immunology , Epilepsy, Temporal Lobe/diagnosis , Epilepsy, Temporal Lobe/immunology , Facial Hemiatrophy/immunology , Follow-Up Studies , Humans , Immunoglobulin E/blood , Male , Tonic Pupil/immunologyABSTRACT
A case of hemifacial atrophy (Parry-Romberg disease) is discussed. Electrophysiological and immunological studies were performed. Electromyography, blink reflex and trigeminal evoked potential abnormalities indicate that the brain stem may be implicated in the aetiology of the disease. Immunological evidence favoured this possibility and demonstrated possible involvement of the noradrenergic system. Hyperactivity of the brain stem sympathetic centres, possibly caused by an autoimmune process, may be the primary cause of the cutaneous and subcutaneous atrophy in Parry-Romberg disease.
Subject(s)
Facial Hemiatrophy/immunology , Facial Hemiatrophy/physiopathology , Sympathetic Nervous System/physiopathology , Adolescent , Blinking/physiology , Brain Stem/physiopathology , Electromyography , Evoked Potentials/physiology , Fluorescent Antibody Technique, Indirect , Humans , Immunoglobulin G/immunology , Male , Neural Pathways/physiopathology , Trigeminal Nerve/physiologyABSTRACT
The present paper reports on the case of a 44 year-old woman with progressive facial hemiatrophy associated with bilateral papillitis who developed an acquired complete third nerve palsy on the unaffected side six months later. This Romberg's disease occurred in the context of an immunologic disturbance which was barely improved by steroids and Disulone. Ophthalmic involvement, particularly neurologic involvement, pathogenic hypothesis are reviewed. The responsibility of sympathetic disorder in Parry-Romberg disease is based on frequent association of progressive facial hemiatrophy and Fuch's and Horner's syndromes.