Assuntos
Neoplasias Encefálicas/patologia , Neoplasias Cerebelares/secundário , Neoplasias Cerebelares/cirurgia , Ângulo Cerebelopontino/patologia , Ângulo Cerebelopontino/cirurgia , Doenças do Nervo Facial/etiologia , Neuroblastoma/patologia , Neuroblastoma/cirurgia , Radiocirurgia/efeitos adversos , Doenças do Nervo Vestibulococlear/etiologia , Audiometria de Tons Puros , Neoplasias Encefálicas/cirurgia , Pré-Escolar , Terapia Combinada , Doenças do Nervo Facial/terapia , Humanos , Masculino , Neuroblastoma/terapia , Recuperação de Função Fisiológica , Tomografia Computadorizada por Raios X , Potenciais Evocados Miogênicos Vestibulares , Doenças do Nervo Vestibulococlear/terapiaRESUMO
An 8-year-old female was diagnosed with Miller-Dieker syndrome with typical facial presentation. Brain magnetic resonance imaging disclosed lissencephaly, and chromosome study revealed 17p13.3 deletion. She developed infantile spasms at an early age, and her seizures were poorly controlled by multiple antiepileptics. Recurrent urinary tract infections were diagnosed during routine out-patient department follow-up. Urodynamic study disclosed a neurogenic bladder. Spinal magnetic resonance imaging revealed a tethered cord resulting from tight filum terminale, and untethering surgery was performed. Four months after the surgery, repeated urine cultures indicated that she was free from the urinary tract infection. Urodynamic study after untethering surgery demonstrated improved compliance of the urinary bladder.
Assuntos
Cauda Equina/anormalidades , Deleção Cromossômica , Cromossomos Humanos Par 17 , Anormalidades Craniofaciais/genética , Malformações do Sistema Nervoso/genética , Defeitos do Tubo Neural/genética , Encéfalo/anormalidades , Encéfalo/patologia , Cauda Equina/patologia , Cauda Equina/cirurgia , Criança , Anormalidades Craniofaciais/diagnóstico , Diagnóstico Diferencial , Feminino , Seguimentos , Humanos , Vértebras Lombares/patologia , Imageamento por Ressonância Magnética , Malformações do Sistema Nervoso/diagnóstico , Defeitos do Tubo Neural/diagnóstico , Defeitos do Tubo Neural/cirurgia , Sacro/patologia , Síndrome , Bexiga Urinaria Neurogênica/diagnóstico , Bexiga Urinaria Neurogênica/etiologia , Infecções Urinárias/diagnóstico , Infecções Urinárias/etiologia , Urodinâmica/fisiologiaRESUMO
Klippel-Feil syndrome (KFS) is a heterogeneous entity, characterized by specific congenital anomalies of segmentation of the cervical spine. We report a case of KFS plus atretic meningocele in one identical twin and anencephaly in the other. These identical twins were both male with no chromosome defect. One of them had anencephaly diagnosed at the gestational age of 17 weeks and died soon after birth, whereas the co-twin had KFS with multiple congenital anomalies including short neck with low hairline, occipital atretic meningocele, butterfly vertebrae, hemivertebrae, cervico-thoracic scoliosis, left thumb preaxial polydactyly, and right undescended testis. He received rehabilitation during infancy and could walk at the age of 15 months. Both of these infants had preaxial polydactyly, which is an uncommon anomaly associated with KFS. In conclusion, iniencephaly and anencephaly are probably the extreme manifestations of KFS rather than different dysraphisms. Prompt clinical suspicion with early diagnostic imaging for spine lesions and occult opening of neural tube is mandatory for further intervention and rehabilitation.
Assuntos
Anencefalia/diagnóstico , Síndrome de Klippel-Feil/diagnóstico , Meningocele/diagnóstico , Adulto , Anencefalia/patologia , Diagnóstico Diferencial , Feminino , Humanos , Recém-Nascido , Síndrome de Klippel-Feil/patologia , Imageamento por Ressonância Magnética , Masculino , Meningocele/patologia , Gravidez , Gêmeos MonozigóticosRESUMO
Central retinal vein occlusion and intracerebral hemorrhage are rare diseases during infancy and are both related to venous thrombosis. We present the case of a full-term male hydrops infant without specific neurologic symptoms initially but later demonstrating bilateral central retinal vein occlusion and intracerebral hemorrhage. We conclude that routine funduscopic examination in high-risk newborns should be seriously considered.
