RESUMO
Pulmonary manifestations are seldom recognized as symptoms of storage disorders. The report describes the diagnostic journey in a 30-month-old male infant, born of a third-degree consanguineous marriage referred to our institute as severe persistent asthma. History revealed that the child had progressively worsening breathlessness and persistent dry cough not associated with fever but accompanied by weight loss. On physical examination, there was growth failure, respiratory distress, clubbing, hepatosplenomegaly, and occasional rhonchi. Blood gas revealed hypoxemia which improved with oxygen administration. Plain X-rays and high-resolution computed tomography of the chest showed perihilar alveolar infiltrates and patchy consolidation. The clinicoradiological features did not support a diagnosis of asthma but favored interstitial lung disease (ILD). Bronchoalveolar lavage was performed as a first-tier investigation. It showed periodic acid-Schiff-negative foamy macrophages. The clues of consanguinity, visceromegaly, ILD, and foamy macrophages in the bronchoalveolar fluid prompted consideration of lysosomal storage disorders as the likely etiology. Gaucher disease and Niemann-Pick disease A/B were ruled out by enzyme estimation. Niemann-Pick disease type C was suspected and confirmed by detecting a homozygous mutation in the NPC2 gene. This case serves to caution physicians against labeling breathlessness in every toddler as asthma. It emphasizes the importance of searching for tell-tale signs such as clubbing and extrapulmonary clues which point to a systemic disease such as lysosomal storage disorders as a primary etiology of chronic respiratory symptoms.
Assuntos
Proteínas de Transporte/genética , Dispneia/etiologia , Glicoproteínas/genética , Pneumopatias/diagnóstico por imagem , Pneumopatias/etiologia , Doença de Niemann-Pick Tipo C/diagnóstico , Infecções Respiratórias/etiologia , Asma , Lavagem Broncoalveolar , Pré-Escolar , Consanguinidade , Tosse/etiologia , Humanos , Masculino , Doença de Niemann-Pick Tipo C/genética , Doenças Raras , Infecções Respiratórias/diagnóstico por imagem , Infecções Respiratórias/patologia , Proteínas de Transporte VesicularRESUMO
A 55 years old female presented with hitherto abdominal pain and gangrenous changes of lower limbs. Patient was found to have extreme thrombocytosis. Approach to thrombocytosis is discussed here.
Assuntos
Arteriopatias Oclusivas/diagnóstico por imagem , Medula Óssea/patologia , Leucemia Mielogênica Crônica BCR-ABL Positiva/diagnóstico , Extremidade Inferior/diagnóstico por imagem , Infarto do Baço/diagnóstico por imagem , Trombocitose/diagnóstico , Angiografia , Aortografia , Arteriopatias Oclusivas/etiologia , Angiografia por Tomografia Computadorizada , Feminino , Gangrena/etiologia , Humanos , Leucemia Mielogênica Crônica BCR-ABL Positiva/complicações , Leucemia Mielogênica Crônica BCR-ABL Positiva/patologia , Extremidade Inferior/irrigação sanguínea , Pessoa de Meia-Idade , Índice de Gravidade de Doença , Infarto do Baço/etiologia , Trombocitose/etiologia , Tomografia Computadorizada por Raios XRESUMO
BACKGROUND: Epithelial neoplasms are uncommon lesions affecting the sino-nasal tract. There are hardly any reports in the Indian literature. AIM: To study the incidence, mode of presentation and histological types of sino-nasal epithelial tumours in the surgical pathology material. SETTING AND DESIGN: Retrospective retrieval of all sino-nasal tumours and analysis of epithelial tumours. MATERIALS AND METHODS: All sino-nasal epithelial tumours, biopsied or surgically excised over a period of ten years, were studied. The tumours were classified as benign or malignant. The histology was correlated with the clinical presentation and investigations. RESULTS: In ten years, there were 120 sino-nasal tumours representing 0.14% of all the surgical specimens received. Sixty-nine epithelial tumours (59.2%) outnumbered the non-epithelial tumours and were diagnosed on the basis of histopathology. Twenty were benign and 49 malignant; occurring predominantly in males. Benign lesions included four squamous papillomas and 16 inverted papillomas, with recurrence in three inverted papillomas (21%). Squamous cell carcinomas were the commonest among malignant tumours and four of these were associated with inverted or cylindrical cell papilloma. The second most frequent malignant tumour was adenoid cystic carcinoma with eight cases. Other rare types included the variants of squamous carcinoma, adenocarcinomas of the non-enteric type, muco-epidermoid carcinoma and undifferentiated carcinomas. CONCLUSION: Sino-nasal epithelial tumours are rare lesions, with male preponderance. Inverted papillomas and squamous cell carcinomas are the most frequent neoplasms.
Assuntos
Carcinoma/patologia , Papiloma/patologia , Neoplasias dos Seios Paranasais/patologia , Adulto , Idoso , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Estudos RetrospectivosRESUMO
Tuberculosis of the middle ear it a rare disease. Due to change in the typical clinical pattern and decrease in incidence, there is a delayed or missed diagnosis and can lead to increased morbidity. We pretent 5 cases of Tuberculous Otitis Media treated over a period of 2 years, highlighting the fact that it must be considered as a differential diagnosis of persistent suppurative otitis media.
Assuntos
Cisto Epidérmico/patologia , Melanócitos/patologia , Dermatopatias/patologia , Adulto , Antígenos de Neoplasias , Divisão Celular , Cisto Epidérmico/metabolismo , Humanos , Imuno-Histoquímica , Masculino , Melanócitos/citologia , Melanócitos/metabolismo , Melanoma/patologia , Antígenos Específicos de Melanoma , Proteínas de Neoplasias/análise , Proteínas S100/análise , Dermatopatias/metabolismoRESUMO
Two cases of plasma cell leukaemia--a rare form of leukaemia are described. Both cases presented with anaemia and hepatosplenomegaly. Investigations revealed leucocytosis with increased plasma cells (> 20%). Skeletal survey revealed a few osteolytic lesions in both cases.
Assuntos
Leucemia Plasmocitária/diagnóstico , Feminino , Humanos , Leucemia Plasmocitária/etiologia , Pessoa de Meia-Idade , Mieloma Múltiplo/complicações , PrognósticoRESUMO
Primary adenocarcinoma is a rare tumour involving the fallopian tube. Two such cases are reported; the first case was associated with papillary carcinoma of the paratubal cysts and the second occurred in a young female.