X-linked hydrocephalus in a male pediatric patient: two case reports

*Correspondence: [e-mail].

Abstract

Case Presentation: We present two cases of male patients followed at a Child Neurology service with a diagnosis of hydrocephalus due to a mutation in the L1CAM gene. The first patient, at 7 months of age, was diagnosed with hydrocephalus intrauterinely by ultrasound, requiring intrauterine and post-natal surgical intervention. He evolved with epileptic seizures on the third day of life. Currently, for seizure control, he uses phenobarbital and levetiracetam. On physical examination, he presents with axial hypotonia and appendicular hyperreflexia, with discoric pupils and coloboma. A brain MRI was performed, which indicated hydrocephalus, extensive dysgyria and aqueductal stenosis. Based on the MRI result, X-linked hydrocephalus was established as the main hypothesis, which was confirmed after verification of the L1CAM gene mutation. The second patient, admitted at 8 months of age, was also referred for epileptic seizures and had a previous diagnosis in utero of hydrocephalus. He was treated effectively with valproate acid. Cranial tomography was performed at birth with evidence of hydrocephalus and stenosis of the aqueduct of Sylvius. A specific genetic test was performed and confirmed the mutation of the L1CAM gene.

Discussion: The X-linked hydrocephalus (XLH) is a rare X-linked recessive genetic disease which predominantly affects male patients during fetal development. This clinical condition is caused by a mutation in the L1CAM1 gene on X chromosome, which codifies the neural cell adhesion molecule L1, playing a role in the development and maintenance of the nervous system. The gene mutation, therefore, compromises the development of the nervous system, leading to hydrocephalus, which affects brain structure and function and causes symptoms such as headache, hypoactivity and seizures.

Final Comments: Infant hydrocephalus is a relevant clinical condition, the early diagnosis of which enables a better prognosis. If not treated properly, hydrocephalus can lead to irreversible brain damage, directly affecting the patient's quality of life. Adequate follow-up using a multidisciplinary approach, involving neurologists, neurosurgeons, physiotherapists and other health professionals can prevent or treat possible neurological complications. Genetic counseling is also important, as the disease is hereditary. Therefore, due to the rarity of the case, more research and efforts are needed to understand and treat this relevant clinical condition.

Publication History

Article published online:
12 May 2025