MUSCLE HEMANGIOMATOSIS PRESENTING AS A SEVERE FEATURE IN A PATIENT WITH THE PTEN MUTATION: EXPANDING THE PHENOTYPE OF VASCULAR MALFORMATIONS IN BANNAYAN-RILEY-RUVALCABA SYNDROME
Soysal Y, Acun T, Lourenço CM, Marques W Jr, Yakıcıer MC
*Corresponding Author: Assistant Professor Yasemin Soysal, Department of Medical Genetics, Afyon Kocatepe University, Faculty of Medicine, Ali Çetinkaya Kampüsü, Afyonkarahisar, 03100, Turkey; Tel.: +90-5423463576; Fax: +90-2722463300; E-mail: yasemin_soysal@yahoo.com
page: 45

MATERIALS AND METHODS

Clinical Report. The proband was an 8-yearold female, referred to the Neurogenetic Division, University of São Paulo-Clinics Hospital, Ribeirao Preto, São Paulo, Brazil, because of recurrent facial palsy. She was the second child of healthy and non onsanguineous parents. Further family history was unremarkable. She was born by vaginal delivery at term; her birth weight, length, and occipitofrontal circumference (OFC) were not recorded at that time. Her growth parameters were normal during childhood. At 2 years of age, she developed recurrent attacks of facial palsy with full recovery days after the episode; there were no other similar cases in her family. Her medical history included one episode of seizures at 3 years of age, but she did not use anticonvulsants. At 7 years of age, she developed gait problems because of pain in her left leg and was evaluated by an orthopedic surgeon who diagnosed hemangiomas. The hemangioma was excised. After histopathological examination, the lesion was diagnosed as an angiolipoma. However, she had another hemangioma in the same leg several months later. At that time her parents noticed that her leg became thinner. New hemangiomas appeared in her right leg, but the parents decided not to operate until they had a defi nite diagnosis. Her teachers noticed learning disabilities in school. At the age of 8, her weight and height were in the 50th percentile and her OFC was greater than the 97th percentile for her age. Her parentsí OFC were in the normal range. When she was 10, her left leg was amputated because of the hemangioma. On phenotypic inspection, a mild facial dysmorphism consisting of a high forehead, a triangular face, pointed chin, down-slanting palpebral fi ssures, and a high-arched palate were observed. Several verrucae vulgares on her arms and hands and small café-au-lait spots on her arms and trunk were identifi ed. Neurological examination identifi ed a mildly asymmetric face, normal eye movements, brisk osteotendinous refl exes, and no signs of cerebellar ataxia. Interestingly, the patient had facial palsy. The weakness in her left leg included a moderate degree of muscle atrophy and aqueous retraction. Her biochemical and serological tests (including thyroid function and karyotype) were all normal. Electroencephalogram (EEG) monitoring recorded as normal. Electromyography (EMG) revealed the presence of myopathic potential units, but nerve conduction velocities were normal. Abdominal ultrasound monitoring recorded as normal. Magnetic resonance imaging (MRI) of the brain showed a small cavitation on the atrium of left lateral ventricle compatible with increased perivascular space. An MRI of the lower limbs showed normal fi ndings in left leg; her right leg displayed the presence of arteriovenous malformation of the right buttock thorough the right lower limbs and severe muscle atrophy. Because of the combination of macrocephaly, angiomyolipomas, and myopathy, we hypothesized that she might have Bannayan-Zonana syndrome, and performed a thyroid ultrasound and colonoscopy. The thyroid ultrasound showed no abnormal fi ndings; colonoscopy showed a few polyps in the sigmoid colon. The results of biopsy on the polyps were compatible with hamartomatous type lesions. In our patient, the existence of hemangiomas, severe vascular malformation leading to amputation of an extremity, macrocephaly, dermatologic and neurologic fi ndings, and facial dysmorphisms in childhood supported a diagnosis of BRRS and an evaluation of PTEN mutation analysis. After we obtained written informed consent from her parents (Ethical Committee for Medical Research document number 12219/2004), we carried out a direct DNA sequencing of the whole PTEN gene exons. Characterization of the PTEN Mutation. We extracted genomic DNA from peripheral blood leukocytes by means of a commercial kit (QIAamp 51104; Qiagen, Hilden, Germany). We then amplifi ed genomic DNA using primers fl anking the exons of PTEN. Primer sequences and their Tm values are given in Table 1. Reaction conditions were as follows: after initial denaturation at 98C for 1 min., three steps were repeated for 35 cycles (denaturation for 8 seconds at 98C, annealing for 8 seconds at 60C and extension for 15 seconds at 72C). The reaction was fi nished with a fi nal extension for 1 min. at 72C. The polymerase chain reaction (PCR) products were directly sequenced by a sequencing service company, Iontek (Istanbul, Turkey), to detect mutation. We used the Mutation Surveyor software package (v 3.10, SoftGenetics, LLC, State College, PA, USA) for mutation screening.



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