Unexpected clinical involvement of hereditary total leuconychia with congenital fibrosis of the extraocular muscles in three generations.

We report familial segregation of hereditary total leuconychia (HTL) with ptosis and restriction of ocular motility due to congenital fibrosis of the extraocular muscles type 1 (CFEOM1) in three generations. In this family, 4 people have HTL and ptosis, and there is restriction of ocular motility due to CFEOM1 in 10 members of the family. To our knowledge, this is the first description of familial segregation of CFEOM1 and HTL, and the second report of unexpected clinical involvement of CFEOM1. We suggest that CFEOM1 is not an isolated phenomenon in these cases. These phenotypes provide valuable insight into the function of the gene(s) localized to 12q13, giving a new perspective on the clinical component of molecular dysmorphology, but this requires further clarification.

Eight-year follow-up of Axenfeld-Rieger syndrome with Turner syndrome.

PURPOSE: To report a case of Turner syndrome associated with iridogoniodysgenesis accompanied by somatic malformations. METHODS: A 29-year-old woman underwent complete ophthalmologic and general examination. Incomplete development of the angle with iris stromal hypoplasia and prominent posterior embryotoxon with iris adhesions were noted. Disc drusen was confirmed by ultrasonography. Visual fields were normal other than bilateral enlargement of blind spot. Intraocular pressure was under 21 mm Hg during 8 years of follow-up without medication. The patient had atrial septal defect, sensorineural hearing loss, polycystic ovaries, hirsutism, glomerulosclerosis, dental anomalies, and low intelligence. A chromosome analysis revealed that she had mosaic Turner syndrome with a 45,X/46,XX karyotype. CONCLUSIONS: Few reported cases in the literature describe the coexistence of Axenfeld-Rieger syndrome and Turner syndrome mosaicism. Somatic and anterior chamber malformations in this patient represent a developmental disorder of the neural crest. General examination and chromosomal analysis are indicated in patients presenting with anterior chamber dysgenesis.

Bilateral discoid medial menisci: an adult patient with symmetrical radial tears in both knees.

A discoid meniscus is a thick meniscus, discoid in shape rather than having the normal semilunar configuration. Discoid meniscus is considered an uncommon lesion; discoid medial meniscus is rare and involvement of the medial meniscus bilaterally is extremely rare. This is the first case report of bilateral discoid medial menisci with symmetrical radial tears. The patient was treated successfully by excision of the central anomalous discoid portion of the menisci, using arthroscopic techniques.

High remission rate in acute myeloblastic leukemia in children treated with high-dose methylprednisolone.

Since the differentiating effect of high-dose methylprednisolone (HDMP) on myeloid leukemic cells has been shown in one of our patients with acute myeloblastic leukemia (AML-M4), 27 previously untreated children with AML were given HDMP (20-30 mg/kg per day) combined with cytosine arabinoside (Ara-C; 3 mg/kg) for the first 2 weeks of induction therapy. Marked clinical improvement was observed in all patients with the exception of one who died within 24 hours of the treatment. Enlarged liver and spleen (greater than 5 cm) became nonpalpable in 3 (37%) out of 8 and 5 (100%) out of 5 patients, respectively, and bone marrow blasts decreased below 5% in 7 patients (27%) within 2 wk of HDMP and Ara-C treatment. Adriamycin (1 mg/kg) was added 2 wk after initiation of induction therapy. Twenty-two (84.6%) of the 26 patients achieved complete remission, 3 (11.5%) had partial remission and no response was obtained in one. Treatment was well tolerated. The addition of HDMP as a differentiating and/or cytolytic agent to conventional anti-leukemic chemotherapy increased the complete remission rate and prolonged the duration of remission of our AML patients.