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Título

ADULT AUTOSOMAL LEUKODYSTROPHY: RARE FAMILY CASE, WITH DYSAUTONOMIA PRECEDING ATAXIA

RESUMO

CASE PRESENTATION:

A family in which 4 of its members were diagnosed with autosomal dominant adult leukodystrophy with dysautonomia (LADA) was studied in our service:
1. PJ, first child, onset of symptoms with pain in the lower limbs (LL) in 2012 at age 42, evolving with loss of strength in the lower limbs and ataxia in 2016. He currently has hoarseness, urinary retention, pain and ataxia in the lower limbs. On MRI: hypersignal in the supratentorial, periventricular white matter, with preservation of the “U” fibers, internal capsule, trigeminal nerve nucleus and midbrain course, cerebellum, cerebellar peduncles with bulbar pyramid extension.
2. AF, second child, started in 2010 at age 40 with a complaint of generalized loss of strength and ataxia with progressive worsening in ambulation and urinary retention. The current physical examination shows hypoesthesia in the right hemibody, in addition to dysmetria in the lower limbs. On magnetic resonance imaging (MRI): symmetrical hypersignal in white matter of the semiovais and periventricular centers, cerebellar peduncle, critical spinal path and medullary bobus transition.
3. AA, third child, individual already in death secondary to a car accident, siblings reported that he had dysmetria in the lower limbs, was diagnosed through imaging tests, but did not maintain medical follow-up.
4. CA, mother started symptoms at 40 years old, with frequent falls, at 56 years old, need for a wheelchair, intestinal and urinary dysautonomia, dying after 14 years. FA and PJ presented. The two brothers present in cervical MRI, medullary thinning and hypersignal.

DISCUSSION:

Autosomal dominant leukodystrophy in adults with dysautonomia is a rare condition to the point that its prevalence is unknown. It is secondary to the accumulation of lamina b1 proteins, by genetic defect 5q23 Lmnb1, leads to demyelination with astrocyte dysfunction and oligodendroglia preservation. The disease has a slow evolution in about 18 years, with paraparesis, spastic tetraparesis and finally pseudobulbar palsy, leading to death. Clinic in which the mentioned family presents, in addition to MRI.

FINAL COMMENTS:

In the literature, only one case is presented in which dysautonomia complained of ataxia, which, like the aforementioned family, alternates the classic order of symptoms. Which makes the reported case even more rare

Palavras Chave

Leukodystrophy, adult autosomal, familiar leukodystrophy