Cases reported "Disease Progression"

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1/40. Neonatal submandibular sialadenitis progressing to submandibular gland abscess.

    Submandibular sialadenitis is exceptionally rare in neonates. We describe a case of submandibular sialadenitis progressing to submandibular abscess in a term neonate. The aetiology, investigations and treatment for this very rare condition are discussed.
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2/40. A case of infantile neuroblastoma with intramucosal metastasis in a paranasal sinus.

    An 8-year-old boy with neuroblastoma of the right adrenal gland is reported. His initial treatment included chemotherapy and surgery, with complete response (CR) being achieved at the initial site. A metastatic lesion was found in the right maxillary sinus 32 months after his initial treatment. A mass in the right soft palate was detected and was clinically suspected of being a metastasis. The results of biopsy were negative and the differential diagnosis from the imaging studies of CT included odontogenic disease, fungal infection, paranasal sinus cyst or hematoma, and benign tumors. Open transantral biopsy was done under general anesthesia, revealing severe inflammation in the right maxillary sinus as well as bone erosion. The histopathological diagnosis was metastatic neuroblastoma from the adrenal lesion. The local field was irradiated with 20 Gy of linear accelerator (linac) radiation, then the local field was eradicated. Extensive skeletal metastases were subsequently found by bone scintigraphy. Despite further treatment his general condition deteriorated rapidly and he died 24 months after starting treatment. We review the previous reports and discuss metastasis to the sinuses.
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3/40. Histomorphometric characteristics and cellular kinetics of colorectal polyps with epithelial serrated proliferation adjacent to carcinoma.

    Four cases of colorectal polyps with epithelial serrated proliferation (CP-ESP) with malignant transformation were studied. In CP-ESP adjacent to carcinoma, if the nuclear size in the surface layer was significantly smaller than those in the bottom and the middle layers of the crypts, the specimen was defined as zone formation positive. If there was no significant difference among the layers, the specimen was defined as zone formation negative. Cell kinetics were evaluated using Ki-67 immunostaining. The CP-ESP regions of cases 1 and 2 showed zone formation with inferior and lateral glandular branching, and were qualitatively hyperplastic on cell kinetics. Cases 3 and 4 showed inferior and lateral glandular branching with no zone formation, and were kinetically neoplastic (adenoma). The histogenesis of hyperplastic polyps with atypia (cases 1 and 2) involves the hyperplastic polyp-carcinoma sequence. In contrast, the development of tubulovillous adenoma or serrated adenoma (cases 3 and 4) may involve the tubulovillous adenoma-carcinoma or serrated adenoma-carcinoma sequence.
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4/40. Juvenile neutrophilic eccrine hidradenitis: a vasculitis-like plantar dermatosis.

    Neutrophilic eccrine hidradenitis is a variety of neutrophilic dermatosis described in patients with different neoplasms, most often leukaemia, and different chemotherapy regimens. It is characterised by neutrophilic infiltration of the eccrine coils of sweat glands. Recently it has been described in healthy juveniles, involving primarily the soles of the feet. We describe five new cases of juvenile neutrophilic eccrine hidradenitis all showing a good prognosis or a self-limiting course.
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5/40. Neurohypophyseal germinoma traced from its earliest stage via magnetic resonance imaging: case report.

    BACKGROUND: We report a case in which magnetic resonance imaging (MRI) documented the formation of a neurohypophyseal germinoma from its earliest stage. CASE DESCRIPTION: A 9-year-old girl presented with polyuria, polydipsia, and growth retardation. Urinary and endocrinological examination indicated diabetes insipidus (DI) and growth hormone deficiency. No clear evidence of a mass in the hypothalamo-pituitary area was apparent on the first MRI scan. Follow-up MRIs and endocrinological examinations revealed that a tumor, arising from the stalk and posterior lobe of the pituitary gland, formed a mass and caused anterior pituitary function to deteriorate. Histologic diagnosis was germinoma based on open biopsy. CONCLUSION: Radiologic findings in this case indicated the primary site of this intrasellar germinoma to be the hypothalamo-neurohypophyseal region, designating this a "neurohypophyseal germinoma."
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6/40. Recurrent attacks of facial nerve palsy as the presenting sign of leukemic relapse.

    OBJECTIVE: To present an unusual case of recurrent facial palsy resulting from acute leukemic infiltration of the parotid gland. STUDY DESIGN: Case report. methods: An 11-year-old boy who had been treated for acute lymphoblastic leukemia (ALL) from 3 to 6 years of age presented with intermittent left facial nerve palsy with concurrent ipsilateral parotid fullness. The initial findings at diagnosis and workup are presented, and the disease progression and resolution with therapy are documented. RESULTS: The patient had been off therapy when this finding developed. A workup for central and viral etiologies for the facial palsy was unrevealing. biopsy of the parotid gland demonstrated a lymphoblastic leukemic infiltrate. The patient was placed on a chemotherapy protocol for relapsed leukemia, resulting in complete resolution of the facial palsy. CONCLUSION: Isolated facial nerve dysfunction, albeit rare, has been documented as a sign of central nervous system involvement in leukemia, but until now this presentation has not been described in the setting of leukemic relapse presenting with acute infiltration of the parotid gland.
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7/40. Invasive adenocarcinoma of the vagina following surgery for adenocarcinoma in situ of the cervix--recurrence or implantation?

    A 51-year-old woman underwent cervical conization for severe glandular abnormal cells. histology noted adenocarcinoma in situ (AIS) with incomplete excision margins. Four months later, hysterectomy revealed no residual disease. Six months subsequently she developed invasive adenocarcinoma of the upper vagina. This report documents the unusual behavior of AIS and its management difficulties.
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8/40. Adrenal myelolipoma. A case report.

    We report a new case in a 56 years old patient who manifested right side's pains. The abdominal CT scan showed a tumor of the right adrenal gland with fat density (size: 8 x 6 x 6 cm). This tumor was removed surgically (weight: 300 g). The histological finding revealed a proliferation of adipocyts and myeloid tissue which contains megakaryocytes, erythroid cells and lymphocyts. The outcome is good after three years of surgery. The surgical treatment becomes necessary when the tumor's size increases or it becomes symptomatic.
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9/40. Progressive onset of adrenal insufficiency and hypogonadism of pituitary origin caused by a complex genetic rearrangement within DAX-1.

    DAX-1 [dosage-sensitive sex reversal, adrenal hypoplasia congenital (AHC) critical region on the x chromosome, gene 1] is a transcription factor expressed in the adrenal gland and at all levels of the gonadotrope axis. Inactivating mutations of DAX1 result in the X-linked form of AHC with associated hypogonadotropic hypogonadism. AHC usually reveals itself as adrenal failure in early infancy, although a wide range of phenotypic expression has been reported. We describe a patient who was diagnosed with adrenal failure at 6 wk of age, but who experienced recovery of adrenal function of several months' duration later in infancy. He subsequently failed to undergo puberty because of hypogonadotropic hypogonadism of pituitary origin, and he was also diagnosed with schizophrenia in early adulthood. Molecular genetic analyses revealed a complex rearrangement in DAX1, including a 2.2-kb deletion spanning the entire second exon and a small 27-bp insertion. The putative protein encoded by this mutated gene is 429 amino acids long. The initial 389 residues probably correspond to the wild-type DAX-1 sequence, whereas the last 40 amino acids are presumably completely unrelated, being transcribed from the intronic sequence adjacent to exon 1. in vitro functional analyses confirm the absence of repressor activity exerted by such mutant protein. These studies expand the genotypic and phenotypic spectrum of DAX-1 insufficiency in humans.
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10/40. Pustular miliaria rubra: a specific cutaneous finding of type I pseudohypoaldosteronism.

    Type I pseudohypoaldosteronism, an autosomal recessive, life-threatening disorder of mineralocorticoid resistance leads to excessive loss of sodium chloride through eccrine and other secretions. Recurrent episodes of pustular miliaria rubra are associated with salt-losing crises and clear spontaneously with stabilization. inflammation of and around the damaged eccrine glands has been attributed to the deleterious effects of excessive eccrine gland salt exposure.
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