Evolution of chronic recurrent multifocal osteomyelitis in a child shown by MRI.

Chronic recurrent multifocal osteomyelitis (CRMO) is a rare idiopathic inflammatory disease that mainly affects children and young adults. The clinical signs and symptoms are nonspecific, hindering and delaying the proper diagnosis. We report a case of CRMO in a child with chronic pain in the cervical and thoracic spine. Investigations of the pain revealed a diagnosis of osteomyelitis in the biopsy, indicating a course of antibiotic treatment. After a year, there was progressive worsening of the pain, and it soon spread to the left wrist and right ankle. Magnetic resonance imaging of the left wrist and right ankle revealed morphostructural changes. A new biopsy was performed on the wrist and ankle, and osteomyelitis was pinpointed again. In view of the clinical, radiological, and histopathological findings, the patient was diagnosed with CRMO. The following treatment consisted of nonsteroidal anti-inflammatory drugs, methotrexate, and pamidronate. The strength of this case is the fact that there was extensive imaging and more than one biopsy, and the patient was followed. Magnetic resonance imaging was valuable in assessing the extent and activity of a lesion.

Rosai-Dorfman disease with spontaneous resolution: case report of a child.

Rosai-Dorfman disease is a self-limiting condition caused by histiocyte proliferation within the sinusoids of lymph nodes and in extranodal tissue. It is a rare disease, particularly in children, that progresses with extensive lymphadenopathy. This paper reports on the case of a 2-year-old child with progressive cervical lymphadenopathy associated with persistent fever and radiological findings suggestive of lymphoma. Histopathological and immunohistochemistry studies of a lymph node biopsy established the diagnosis of Rosai-Dorfman disease. Both lymphadenopathy and fever resolved spontaneously.

Rosai-Dorfman disease with spontaneous resolution: case report of a child

Rosai-Dorfman disease is a self-limiting condition caused by histiocyte proliferation within the sinusoids of lymph nodes and in extranodal tissue. It is a rare disease, particularly in children, that progresses with extensive lymphadenopathy. This paper reports on the case of a 2-year-old child with progressive cervical lymphadenopathy associated with persistent fever and radiological findings suggestive of lymphoma. Histopathological and immunohistochemistry studies of a lymph node biopsy established the diagnosis of Rosai-Dorfman disease. Both lymphadenopathy and fever resolved spontaneously.

[Neuronal ceroid lipofuscinosis: clinical and neuroradiological findings]. / Lipofuscinose ceróide neuronal: achados clínicos e neurorradiológicos.

The neuronal ceroid lipofuscinoses (NCL) are a group of neurodegenerative disorders, characterized by abnormal storage of an autofluorescent substance of lipopigments, resembling ceroid and lipofuscin, within lysosomes of neurons and other types of cells. The main phenotypic subtypes have been established on the basis of age of onset, clinical course, and ultra structural morphology, and classified as infantile, late infantile, juvenile and adult forms. Six genes have been associated with human NCL and approximately 150 mutations have been described. The aim of this study is to report the clinical, neuroradiological, and morphological characteristics of seven patients evaluated at Sarah Network of Hospitals for Reabilitation-Fortaleza-Ceará-Brazil. Five cases were histopathologically confirmed with skin biopsy and two were siblings of confirmed patients. An early diagnosis of NCL, an autosomal recessive disease, is mandatory for genetic counseling and to avoid further cases in the family. Imaging findings can contribute to the differential diagnosis.

Lipofuscinose ceróide neuronal: achados clínicos e neurorradiológicos / Neuronal ceroid lipofuscinosis: clinical and neuroradiological findings

Lipofuscinose ceróide neuronal (LCN) constitui um grupo de doenças neurodegenerativas caracterizadas pelo depósito anormal de uma substância autofluorescente de lipopigmentos, que lembra ceróide e lipofuscina, dentro dos lisossomos dos neurônios e outros tipos de células. Os principais subtipos fenotípicos, baseando-se na idade de início, curso clínico e morfologia ultraestrutural, são classificados em formas infantil, infantil tardia, juvenil e adulta. Seis genes associados a lipofuscinose ceróide foram identificados e aproximadamente 150 mutações também são descritas. Relatamos sete pacientes com LCN baseados na história clínica, achados neurorradiológicos e patológicos avaliados na Rede Sarah de Hospitais de Reabilitação - Fortaleza - Ceará - Brasil. Cinco casos foram confirmados com biópsia de pele, sendo dois casos irmãos de pacientes confirmados. O diagnóstico precoce de LCN, uma doença com herança autossômica recessiva, é mandatório para aconselhamento genético e prevenção de outros casos na família. Os achados de imagem podem contribuir no diagnóstico diferencial.

The neuronal ceroid lipofuscinoses (NCL) are a group of neurodegenerative disorders, characterized by abnormal storage of an autofluorescent substance of lipopigments, resembling ceroid and lipofuscin, within lysosomes of neurons and other types of cells. The main phenotypic subtypes have been established on the basis of age of onset, clinical course, and ultra structural morphology, and classified as infantile, late infantile, juvenile and adult forms. Six genes have been associated with human NCL and approximately 150 mutations have been described. The aim of this study is to report the clinical, neuroradiological, and morphological characteristics of seven patients evaluated at Sarah Network of Hospitals for Reabilitation - Fortaleza - Ceará - Brazil. Five cases were histopathologically confirmed with skin biopsy and two were siblings of confirmed patients. An early diagnosis of NCL, an autosomal recessive disease, is mandatory for genetic counseling and to avoid further cases in the family. Imaging findings can contribute to the differential diagnosis.