Neurology: Repeated brainstem strokes misdiagnosed as neurobehcet's disease

18-year-old female
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From the age of 9 years, repeated episodes of diplopia, a total of 3 episodes
.

Each MRI examination shows long T2 signals in the midbrain and pons, with diffusion inhibition and no enhancement:

Genetic screening was diagnosed as ADA2 deficiency syndrome (deficiency in ADA2 syndrome, DADA2)
.

In the figure below, the axial DWI MRI shows local diffusion inhibition: the right midbrain (A) at the age of 9 years; the left parapontine at the age of 11 (B) and the right medial longitudinal tract of the midbrain at the age of 18 (C)
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(D, E) The softening foci at the previous onset can be seen:

DADA2 was first reported in 2014, which is a single-gene systemic vasculitis caused by a recessive loss-of-function mutation in ADA2 (previously known as CECR1)
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The clinical feature of DADA2 is vascular disease of small and medium arteries, which can affect any organ system
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Mucosal skin manifestations are the most common, seen in 75% of affected patients, and include lively reticularis, polyarteritis nodosa, and Raynaud's phenomenon

It is worth noting that 50% of patients have neurological events
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Ischemic stroke is the most common neurological symptom (27%), followed by cranial nerve palsy (14%), hemorrhagic stroke (12%), polyneuropathy (9%) and other neurological symptoms (16%)

About half of DADA2 patients have different degrees and types of hematological and immunological abnormalities
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Laboratory studies may show multi-lineage cell reduction, including lymphopenia, neutropenia, anemia, and thrombocytopenia

Original source:

Alisa Mo, Stephanie Donatelli, et al.