Manifestaciones bucales de pacientes con mucopolisacaridosis / Oral manifestations in patients with mucopolysaccharidosis

Objetivo: Describir las características bucales prevalentes de pacientes argentinos con mucopolisacaridosis (MPS) atendidos en el Servicio de Odontología del Hospital Nacional "Prof. Alejandro Posadas". Materiales y métodos: Se consideraron las historias clínicas de 19 pacientes con diagnóstico de MPS. Se registraron la edad, el sexo, el lugar de residencia, el tipo de MPS y la presencia de retraso madurativo. La muestra estuvo constituida por 13 niños (6,7±3 años) y 6 adultos (26±9 años): 2 eran mujeres (1 con MPS tipo I; 1 con MPS tipo IV A) y 17 eran hombres (15 con MPS tipo 2; 1 con MPS tipo 1; 1 con MPS tipo III); 13 de los pacientes presentaban discapacidad intelectual. Se evaluaron: tipo de dentición, oclusión, macroglosia, hipoplasias del esmalte, tipo de respiración predominante, clase molar y tratamiento realizado. Resultados: Ambos casos con MPS I presentaban mordida abierta anterior y giroversión dental, y solo uno de estos, diastemas, microdoncia, hipoplasias del esmalte, macroglosia y respiración bucal. De los 15 pacientes con MPS II, 11 presentaban mordida abierta anterior (73%), 3 mordida cruzada posterior (20%), 5 giroversión dental (33%), 11 diastemas (73%), 3 retraso en la erupción (20%), 4 hiperplasia gingival (26%), 13 macroglosia (87%), 7 hipoplasias del esmalte (47%), 2 microdoncia (13%), 9 respiración bucal (60%). Se registraron 5 pacientes con clase molar I (33%), 3 con clase molar II (20%), 3 con clase molar III (20%) y en 3 casos no se pudo evaluar (20%). En el paciente con MPS tipo III se halló mordida abierta anterior, diastemas, retraso en la erupción, macroglosia, respiración bucal y clase molar II; y en el caso de MPS tipo IV A, mordida abierta anterior, diastemas, hiperplasia gingival, macroglosia y clase molar II. El 90% de los pacientes requirió tratamiento odontológico (AU)

Aim: To identify the most prevalent oral manifestations of 19 Argentine patients with mucopolysaccharidos (MPS) attending the Dentistry Service of the National Posadas Hospital. Materials and methods: The medical records of 19 patients diagnosed with MPS were considered. Age, sex, place of residence, type of MPS, and presence of maturational delay were recorded. The sample consisted of 13 children (6.7 ± 3 years) and 6 adults (26 ± 9 years): 2 were women (1 with MPS type I; 1 with MPS type IV A) and 17 were men (15 with MPS type 2; 1 with MPS type 1; 1 with MPS type III); 13 of the patients had intellectual disabilities. The following were evaluated: type of dentition, occlusion, macroglossia, enamel hypoplasia, predominant type of respiration, molar class and treatment performed Results: Both cases with MPS I presented anterior open bite and dental gyroversion, and only one of these, diastemas, microdontia, enamel hypoplasia, macroglossia and mouth respiration. Of the 15 patients with MPS II, 11 presented anterior open bite (73%), 3 posterior crossbite (20%), 5 dental gyroversion (33%), 11 diastemas (73%), 3 delayed eruption (20%), 4 gingival hyperplasia (26%), 13 macroglossia (87%), 7 enamel hypoplasia (47%), 2 microdontia (13%), 9 mouth breathing (60%). 5 patients with molar class I (33%), 3 with molar class II (20%), 3 with molar class III (20%) and in 3 cases it could not be evaluated (20%). In the patient with type III MPS, anterior open bite, diastemas, delayed eruption, macroglossia, mouth breathing and molar class II were found; and in the case of type IV A MPS, anterior open bite, diastemas, gingival hyperplasia, macroglossia and molar class II. 90% of the patients required dental treatment. Conclusion: The most observed oral manifestations were macroglossia (84.2%) and anterior open bite (73%) (AU)

Enfermedades por depósito lisosomal: diagnóstico a partir de lesiones cutáneas / Lysosomal storage diseases, diagnosis from skin lesions

Las enfermedades por depósito lisosomal (EDL) son un grupo heterogéneo de más de 40 dolencias genéticas, debidas a la deficiencia de diversas enzimas encargadas de metabolizar sustancias dentrode los lisosomas. Estas macromoléculas se depositan dentro de las organelas de múltiples órganos y dan lugar a diversos signos y síntomas.Muchas de estas enfermedades tienen manifestaciones cutáneas, e incluso en algunas oportunidades es el dermatólogo quien sospecha el diagnóstico a partir de las lesiones en piel.En el presente trabajo se describen 8 pacientes con EDL, diagnosticados en nuestro servicio entre 2009 y 2010, en los cuales las lesiones en piel fueron la clave para arribar al diagnóstico.Cinco pacientes presentaban enfermedad de Fabry (un varón y 4 mujeres), uno mucopolisacaridosis 2 (sexo masculino), uno beta-manosidosis (sexo masculino) y el último galactosialidosis (sexo femenino).Los angioqueratomas fueron la manifestación cutánea más frecuente, y la clave diagnóstica en los pacientes con Fabry, el paciente con manosidosis y la paciente con galactosialidosis, mientras que la lesión en piel que llevó a sospechar mucopolisacaridosis 2 fueron manchas mongólicas aberrantes, algunas lenticulares, que comprometían el tronco.En cuatro pacientes el diagnóstico se confirmó por estudios enzimáticos en gota de sangre en papel de filtro, leucocitos y/u orina. En cinco pacientes (uno de los cuales ya había sido diagnosticado deforma bioquímica) se realizó estudio molecular. En todos los pacientes se hicieron los estudios complementarios necesarios para evaluar extensión del compromiso extracutáneo y necesidad de tratamientoespecífico (en aquellos pacientes en los cuales su enfermedad de base dispone de terapia de reemplazo enzimático). En uno de los pacientes con Fabry se inició terapia específica.El interés de nuestro trabajo radica en mostrar distintas EDL en las cuales el rol del dermatólogo fue fundamental para arribar al diagnóstico, resaltando..

Lysosomal-storage disorders are a group of more than 40 heterogeneous hereditary diseases dueto the deficiency of various lysosomal enzymes, in charge of the metabolization of macromolecules,with accumulation of the undigested substances inside those organelles througout severalorgans, deriving in the multiple symptoms and signs of these diseases.A great number of these diseases may have cutaneous lesions, and in many cases the dermatologistmay be the one to suggest the diagnosis.We describe eight patients with lisosomal storage diseases diagnosed at our hospital during 2009and 2010, on whom the cutaneous lesions were the clue to the diagnosis. Five patients were diagnosed as Fabry´s disease (1 male and 4 females), one as mucopolisaccharidosis2 (male), one as mannosidosis (male) and the last one as galactosyalidosis (female). Angiokeratomaswhere the most frequent cutaneous manifestation, and the key to the diagnosis inFabry’s, beta mannosidosis and galactosyalidosis, while aberrant and lenticular mongolian spotson the trunk led us to the diagnosis of mucopolissacharidosis 2.On four patients the diagnosis was confirmed by biochemical work-up. On five patients (one ofthem had already been confirmed with biochemistry) a genetic study was also performed.On all the patients studies where performed to evaluate the extension of the systemic disease andthe need of a specific treatment (for those diseases where it is available). One of the patients withFabry´s disease started the treatment soon after the diagnosis.We would like to emphasize the fundamental role of the dermatologist in diagnosing these diseases,stressing not only the academic importance of these rare diseases but also the possibility ofstarting in many of them specific enzyme replacement treatment.

Prospective study of 11 Brazilian patients with mucopolysaccharidosis II

OBJETIVO: Avaliar a progressão da mucopolissacaridose II, durante um período de 12 meses, em 11 pacientes brasileiros. MÉTODOS: Onze pacientes brasileiros com mucopolissacaridose II foram avaliados prospectivamente no Serviço de Genética Médica do Hospital de Clínicas de Porto Alegre. As avaliações realizadas na visita inicial e na de 12 meses foram: anamnese, exame físico, ressonância nuclear magnética abdominal, ecocardiograma, teste da caminhada em 6 minutos, audiometria, exames bioquímicos séricos e dosagem uriná- ria de glicosaminoglicanos. RESULTADOS: Os principais achados relativos à comparação entre as duas visitas foram: 1) dois pacientes apresentaram retardo de crescimento; 2) dois pacientes apresentaram variação negativa em relação ao peso; 3) um paciente apresentou variação de obesidade para sobrepeso; 4) três pacientes desenvolveram alargamento do ventrículo esquerdo; destes, dois aumentaram o número de lesões nas valvas cardíacas; 5) não foi encontrada diferença estatística significativa entre a média das distâncias percorridas no teste da caminhada em 6 minutos; 6) houve aumento do volume esplênico; 7) ocorreu aumento dos níveis de gamaglutamiltransferase; 8) não houve alteração dos níveis urinários de glicosaminoglicanos. CONCLUSÕES: De uma maneira geral, a única variável que apresentou, no período estudado, piora com potencial repercussão clínica imediata foram os achados ecocardiográficos. Embora o período de 12 meses seja curto para medir alterações na maioria dos parâmetros comprometidos na mucopolissacaridose II, sua natureza progressiva deve ser levada em conta na avaliação da eficácia dos protocolos de tratamento para essa condição.

OBJECTIVE: To assess the progression of mucopolysaccharidosis II in 11 Brazilian patients over a 12-month period. METHODS: Eleven Brazilian patients with mucopolysaccharidosis II were prospectively studied at the Division of Medical Genetics of Hospital de Clínicas de Porto Alegre. The initial assessment and the assessment at 12 months included: anamnesis, physical examination, abdominal nuclear magnetic resonance, echocardiogram, 6-minute walk test, audiometry, serum biochemical tests and urinary glycosaminoglycan concentration. RESULTS: The major findings after comparing the assessments were: 1) two patients had growth retardation; 2) two patients showed negative weight change; 3) one patient went from obese to overweight; 4) three patients revealed left ventricle hypertrophy; of these, two increased the number of cardiac valve lesions; 5) there was no statistically significant difference between the mean distances obtained on the 6-minute walk test; 6) there was splenic enlargement; 7) there was an increase in gamma-glutamyltransferase levels; 8) the urinary concentration of glycosaminoglycans remained unchanged. CONCLUSIONS: In general, echocardiographic findings were the only variable with deterioration and possible immediate clinical consequences. Although a 12-month period is too short to detect changes in most variables related to mucopolysaccharidosis II, its progressive nature should be taken into account when evaluating the efficiency of treatment protocols.