Oral mass revealing Chédiak-Higashi syndrome.

This case report describes common oral inflammatory findings leading to the identification of Chédiak-Higashi syndrome (CHS). A 15-year-old girl presented with an enlarging and painful mass on the upper lip. Two weeks after the initial visit, the mass showed further protrusion in the absence of fever. Magnetic resonance imaging revealed a well-circumscribed cystic lesion with a thick capsule, and suggested an abscess derived from the mucous cyst in the upper lip. Inflammation indices were not elevated; however neutrophils were significantly lower than the normal level. Giant cytoplasmic granules in neutrophils, eosinophils, and lymphocytes, which are pathognomonic of CHS, were noted. The patient displayed brownish-red hair with some grey hair, and partial oculocutaneous albinism. Hepatosplenomegaly was evident on ultrasonography. The final diagnosis was of an oral infection facilitated by the adolescent form of CHS (gene CHS1/LYST at 1q42.1-2). This report offers a reminder that lip swelling may represent the initial manifestation of the inflammatory response in a patient with loss of immunocompetence due to pathologies such as CHS, and may rarely present as the patient's main complaint.

Radiographic evaluation of destructive periodontal disease in blue mink in relation to age and blood morphology.

In this study, blood samples and jaws were collected from 2 genotypes of blue mink (n = 289) in order to examine phenotypic expression of specific characteristics of Chediak-Higashi Syndrome (C-HS). Blood samples were subjected to differential counts to assess the proportion of abnormal polymorphonuclear leukocytes characteristic for CH-S (C-HS-leukocytes). Abnormal leukocytes with characteristic signs of C-HS were found in blood smears from all mink included in this study. Four teeth in one half of the mandible (P3, P4, M1, M2) were subjected to quantitative radiographic evaluation of alveolar bone loss and tooth loss. There was a high prevalence of destructive periodontal disease among blue mink included in this study. Mild to moderate periodontal disease (defined by less than 50% alveolar bone loss related to 1 or more teeth) affected 73.7% of young mink (age = 7 mo) and 67.9% of older animals (age > or = 19 mo). Severe periodontal disease (defined by more than 50% bone loss related to one or more teeth) was not detected in mink aged 7 mo, but affected 15.3% of mink aged 19 mo and 39.6% of mink aged 31 mo. The positive relationship between age and periodontal disease was statistically significant (P < 0.01). The prevalence of tooth loss was found to be high among blue mink aged > 19 mo (21.6%) and was also significantly related to age (P < 0.01). A significant positive interaction between alveolar bone loss and tooth loss (P < 0.01), implies that the highly prevalent tooth loss in the mink was related to and possibly caused by destructive periodontal disease. There was no significant difference in the prevalence of periodontal disease between the 2 genotypes and age was found to be the only statistical predictor of poor production results (P < 0.01) in blue mink.

Accelerated phase of Chédiak-Higashi syndrome diffuse white-matter-enhancing lesions.

We present the CT and MRI findings of a patient with Chédiak-Higashi syndrome in the accelerated phase with marked white-matter abnormalities. Pathologic and clinical features allow diagnosis of this condition, which in this case had dramatic neuroradiographic manifestations not well described in previous reports.

The role of high dose methylprednisolone and splenectomy in the accelerated phase of Chédiak-Higashi syndrome.

The Chédiak-Higashi syndrome (CHS) is a rare autosomal recessive immunodeficiency disorder. Some cases with CHS develop the accelerated phase characterized by pancytopenia, high fever and lymphohistiocytic infiltration of liver, spleen and lymph nodes. The treatment of the accelerated phase of CHS is difficult. We describe a case with CHS in the accelerated phase who had multiple polyposis and pulmonary infiltration that was probably due to involvement of CHS. She was successfully treated with high-dose methylprednisolone at her first admission. At her second admission, splenectomy was performed to remove hypersplenism, and her clinical, radiological and hematological findings improved significantly.

The Chédiak-Higashi syndrome: CT and MR findings.

Chédiak-Higashi syndrome (CHS) is a rare autosomal recessive disorder postulated to result from lack of regulation of fusion of the primary lysosomes. In this report we present the MR and CT features of the brain in a patient with known CHS. These findings include diffuse atrophy of the brain with diffuse periventricular decreased density identified with CT, as well as increased signal on the T2-weighted images and lack of enhancement on the T1-weighted images in the periventricular and corona radiata regions.