Leukoencephalopathy with cerebral calcifications and cysts: a case report

Case presentation: A 5-year-old girl initially suspected of having neurofibromatosis type 1 (NF1) due to developmental delay and café au lait spots. In March 2022, evolved with neurodevelopmental regression, progressive loss of strength and gait ataxia. Three months later she had an afebrile epileptic seizure, a computed tomography (CT) scan of the brain was performed, which showed leukoencephalopathy with microcalcifications and cysts, the largest in the right semi-oval center. Upon admission, she could no longer stand without support, presenting a divergent deviation of the right eye, worsening of speech but without impairment of swallowing or cognition. On physical examination, obeyed commands, had isochoric and photoreactive pupils, right divergent strabismus, decreased trophism, axial hypotonia, partial cephalic support, right appendicular hypotonia, left distal hypertonia with strength alteration, asymmetrical phasic myotatic reflexes, several café au lait spots in trunk and arms. A new brain CT, cranial and neuraxial magnetic resonance imaging was performed, which ruled out lesions suggestive of NF1. The patient was evaluated by the ophthalmology team that ruled out retinal lesions. Neurosurgery chose not to intervene given the location of the cyst. Genetic testing for Labrune Syndrome was performed, still without result.

Discussion: Leukoencephalopathy with cerebral calcifications and cysts, Labrune Syndrome, was recently described, in 1996. The radiological manifestations had already been described in 1988, as part of Coats plus Syndrome or Cerebroretinal Microangiopathy with calcifications and cysts. The microangiopathy of Labrune Syndrome is characterized only by the involvement of the CNS. In Coats plus Syndrome, this is more widespread, with retinal telangiectasia and osteopenia, anemia, portal hypertension, liver, nail and capillary changes and, in rare cases, café au lait spots. This patient has only CNS involvement and café au lait spots. Deficits on physical examination appear to be due to the cyst in the semi-oval center on the right.

Final comments: This case confirms the difficulty in making the differential diagnosis, since the brain lesions are identical in both diseases. In the specific case, a further complicating factor emerged, which was the presence of café au lait spots. Thus, there is a need for diagnostic confirmation through genetic tests.

 

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No conflict of interest has been declared by the author(s).

Publication History

Article published online:
18 September 2023