5501/17433. Pseudotrisomy 13 syndrome: a case with left ventricular hypoplasia and duodenal stenosis. We report a case of a female child born at 32 weeks of gestation. birth weight was 1200 g (<3rd centile), length 40 cm (10th-50th centile) and head circumference 23.5 cm (<3rd centile). Clinical examination revealed microcephaly, hypotelorism, microphthalmia, a flat rudimentary nose with a single nasal cavity, high palate, thick dysplastic low-set ears, a short neck, postaxial polydactyly of the upper limbs, and single palmar creases. Investigations showed alobar holoprosencephaly, absence of the third ventricle and midline structures of the brain, microphthalmia, hypotelorism, left ventricular hypoplasia, a large atrial septal defect, and duodenal stenosis. The karyotype was 46,XX. A hypoplastic left ventricle and duodenal stenosis have not been previously reported in pseudotrisomy 13 and this case might aid in the further delineation of this syndrome. ( info) |
5502/17433. Asymmetric crying facies: a possible marker for congenital malformations. Asymmetric crying facies (ACF) is caused by agenesis or hypoplasia of the depressor anguli oris muscle on one side of the mouth. Though it is an isolated finding in most cases, ACF can be associated with other congenital malformations especially of the cardiovascular system. We report a case of ACF that was subsequently diagnosed as Cayler syndrome based on associated tetralogy of fallot (TOF) and deletion of chromosome 22q11. ( info) |
5503/17433. Three-dimensional CT of Eagle's syndrome. This case report presents three-dimensional computed tomography (3D-CT) findings in the diagnosis of Eagle's syndrome that is characterized with an elongated styloid process or a calcified stylohyoid ligament causing craniofacial or cervical pain. We have performed 3D-CT in three patients suspected to have this condition. Coronal images were taken in two patients and axial images in one patient with a spiral CT scanner. 3D-CT images were then produced. The length of the styloid process in the case suspected of right elongated styloid process was 45.6 mm (left styloid process, 37 mm). In the second case suspected of left elongated styloid process, the length of the left styloid process was 41.1 mm (right styloid process, 40.2 mm). In the last case suspected of right elongated styloid process, the length of the right styloid process was 40.6 mm (left styloid process, 38.9 mm). 3D-CT is a valuable diagnostic tool in the diagnosis of Eagle's syndrome because of its ability to facilitate accurate measurement of the length of the styloid process. ( info) |
5504/17433. popliteal artery entrapment syndrome. popliteal artery entrapment syndrome is a rare but potentially limb threatening peripheral vascular disease occurring predominantly in young adults. We report a case of a 17-year-old boy who presented with intermittent claudication on the right side. Digital subtraction angiography revealed bilateral, focal narrowing of the popliteal arteries. magnetic resonance imaging displayed compression of the arteries by the medial head of the gastrocnemius muscles. The mechanism, presentation, imaging findings, and management of this rare disease are discussed. ( info) |
5505/17433. Localized and dynamic repolarization alternans in ajmaline accentuated brugada syndrome. We performed incremental atrial pacing immediately after ajmaline infusion in an asyntomatic female patient whose basal ECG was suggestive of brugada syndrome. ajmaline accentuated the BS ECG pattern. Incremental Atrial pacing induced localized and dynamic repolarization alternans and unequal diastolic intervals (TQ intervals). No ventricular rhythms were elicited (other than short-coupled, monomorphic, low-density ventricular beats. ( info) |
5506/17433. CMV retinitis in a patient with good syndrome. PURPOSE: To describe cytomegalovirus (CMV) retinitis in a patient with Good syndrome. methods: A 48-year-old patient with Good syndrome presented with a necrotizing retinitis in the left eye. Quantitative touchdown real-time polymerase chain reaction (PCR) was performed on aqueous fluid. RESULTS: Quantitative PCR showed 152 copies of CMV per ml and was negative for varicella zoster virus (VZV), Epstein-Barr virus (EBV), herpes simplex virus (HSV-1), and HSV-2. The positive CMV PCR suggested CMV retinitis and the patient was treated with intravitreal ganciclovir injections (2.5 mg/0.05 ml), followed by ganciclovir implant. The retinal lesions showed decreasing activity two weeks after the onset of the therapy. A repeat PCR showed a decreasing number of CMV copies at one and two weeks (122 copies/ml and 0 copies/ml, respectively) that correlated clinically with the decreasing retinitis activity. CONCLUSIONS: Quantitative PCR can be useful in diagnosing as well as assessing the response to therapy of CMV retinitis in patients with Good syndrome. ( info) |
5507/17433. Kashin-Beck's disease. A case of Kashin-Beck's disease is presented. It is an acquired, disabling, polyarthritic, degenerative condition of early onset, sometimes leading to a variable degree of dwarfism. It occurs endemically in certain Asian areas. Treatment is, if possible, preventive. In the established disease the therapy is that of any other form of secondary osteoarthritis. Reconstructive surgery and removal of loose bodies may be needed in severe cases (11). Early detection, facilitated by careful family history taking, is a prime requisite, especially in non-endemic areas (7). ( info) |
5508/17433. perioperative care of a patient with Beare-Stevenson syndrome. Beare-Stevenson syndrome is a craniofacial syndrome consisting of a specific pattern of craniosynostosis resulting in a cloverleaf skull deformity and hydrocephalus, down-slanting palpebral fissures, proptosis, hypertelorism, strabismus, dysmorphic ears, choanal atresia, cleft palate, cutis gyratum, acanthosis nigricans, and abnormal genitalia. Its primary cause has been identified as a single amino acid substitution in fibroblast growth factor receptor 2. Of primary importance to the anesthesiologist are issues related to airway management resulting from midface hypoplasia, choanal atresia, and airway abnormalities (tracheal stenosis). Additional issues affecting airway management include associated cervical spine and foramen magnum abnormalities. The authors present their experience caring for a patient with Beare-Stevenson syndrome and discuss the anesthesia care of these patients. ( info) |
5509/17433. Short stature, Robin sequence, cleft mandible, pre/postaxial hand anomalies, and clubfoot: a new autosomal recessive syndrome. We report on 5 unrelated Brazilian children with short stature, Robin sequence, cleft mandible, pre/postaxial hand anomalies, and clubfoot. Genetic aspects and phenotypic manifestations are compared with those of previous reports of acrofacial dysostoses and with other Robin sequence syndromes. We suspect that these patients present a previously undescribed autosomal recessive syndrome. ( info) |
5510/17433. dwarfism, rhizomelic limb shortness, and abnormal face: new short stature syndrome sharing some manifestations with Robinow syndrome. We describe a child with short stature of prenatal onset, rhizomelic limb shortness affecting the upper limbs particularly, and an unusual face. She had frontal balding, mid-face hypoplasia, a small nose, macrostomia with down-turned corners of the mouth, gingival hypertrophy, and hypoplasia or absence of the clitoris. There was no gross modelling defect of the skeleton and the vertebral column was normal. Some of these manifestations overlap with those of Robinow syndrome. ( info) |