RESUMEN
Tubulinopathies are associated with malformations of cortical development but not Walker-Warburg Syndrome. Intensive monitoring of a Croatian infant presenting as Walker-Warburg Syndrome in utero began at 21 weeks due to increased growth of cerebral ventricles and foetal biparietal diameter. Monitoring continued until Caesarean delivery at 34 weeks where the infant was eutrophic. Clinical assessment of a progressive neurological disorder of unknown aetiology found a macrocephalic head and markedly hypoplastic genitalia with a micropenis. Neurological examination showed generalized hypotonia with very rare spontaneous movements, hypotonia-induced respiratory insufficiency and ventilator dependence, and generalized myoclonus intensifying during manipulation. With clinical features of hypotonia, lissencephaly, and brain malformations, Walker-Warburg Syndrome was suspected; however, eye anomalies were absent. Genetic trio analysis via whole-exome sequencing only identified a novel de novo mutation in the TUBA1A gene (NM_006009.4:c.848A>G; NP_006000.2:p.His283Arg) in the infant, who died at 2 months of age, as the likely cause. We report a previously unpublished, very rare heterozygous TUBA1A mutation with clinical features of macrocephaly and hypoplastic genitalia which have not previously been associated with the gene. The absence of eye phenotypes or mutations in Walker-Warburg-associated genes confirm this as not a new presentation of Walker-Warburg Syndrome but a novel TUBA1A tubulinopathy for neonatologists to be aware of.
Asunto(s)
Tubulina (Proteína) , Síndrome de Walker-Warburg , Humanos , Tubulina (Proteína)/genética , Síndrome de Walker-Warburg/genética , Síndrome de Walker-Warburg/patología , Femenino , Recién Nacido , Lactante , Mutación , Secuenciación del Exoma , Masculino , Croacia , Resultado FatalRESUMEN
Capillary hemangiomas of the testis are extremly rare tumors. We reported a case of intratesticular hemangioma, unusually localisation of this vascular benign neoplasm. The patient was 12 year old boy, with hydrocele and a palpabile testicular mass. Scrotal sonography revealed varicocele and hydrocele in the left scrotal sac. There was a solid hypoechogenic zone 5 mm in diameter in the left testis. Tumor markers like serum level of beta human chorionic gonadotropin and alpha fetoprotein were normal. The patient underwent surgery, and intraoperativ frozen section showed a capillary hemangioma. The lesion was completly removed, but testis was preserved. Accordingly tu the literature, tumors of vascular origin are extremly rare. Capillary hemangiomas of the testis are similarity to malignant testicular solid tumors during physical examination, ultrasound examination and MR imaging. Before operation, it's hardly differentiate tumors of testis, but intraoperativ frozen section cuold be helpfull to differentiate a hemangioma from other testicular mass. Hemangioma is benign, but lesion must be complete removed to avoid recurence. In cases capillarx hemangimas, tumor enucleation with preservation tissue of the testis is possible if intraoperative frozen section examination can be performed.