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"Dystonia–deafness syndrome (DDS) is a rare neurogenetic disorder with congenital sensorineural hearing loss and progressive dystonia linked to ACTB mutations. A 22-year-old man with congenital deafness and speech impairment presented with adolescent-onset tremors evolving to generalized dystonia, titubation, and gait disturbances. Magnetic resonance imaging of the brain was unremarkable. Fluorodeoxyglucose–positron emission tomography showed basal ganglia hypometabolism, with severely reduced uptake in the right putamen and caudate on Technetium-99m labeled TRODAT-1 Single Photon Emission Computed Tomography (TRODAT SPECT) imaging. A heterozygous pathogenic missense variant in ACTB gene (c.547C>T; p.Arg183Trp) with an additional heterozygous variant in VPS16 (c.1612C>A; p.Leu538Met) was identified. The ACTB variant explains core DDS features, whereas the coexisting VPS16 variant represents an additional finding of uncertain clinical significance. This case highlights the functional imaging abnormalities in ACTB-related DDS and emphasizes the value of multimodal imaging in the evaluation of genetically confirmed complex dystonia."

"We describe recurrent intracranial hemorrhages (ICH) in a 22-year-old man with intellectual disability and seizures. One year after his first seizure, he presented for evaluation of a second seizure and was found to have an acute left frontal ICH on computed tomography (CT). Cerebral angiography demonstrated venous stasis of unclear etiology. One month after discharge, he was readmitted with a new right frontal ICH and subsequently developed additional bilateral frontal hemorrhages. Repeat angiography demonstrated persistent contrast opacification in the late venous phase, indicating venous congestion. Evaluation for coagulopathy revealed incidental inguinal lymphadenopathy on CT, and biopsy-confirmed sarcoidosis. Brain biopsy showed non-necrotizing granulomatous inflammation consistent with neurosarcoidosis. ICH in neurosarcoidosis is extremely rare. The proposed mechanism is meningovascular granulomatous infiltration causing venous congestion and stasis, leading to venous infarction with hemorrhagic conversion. This case highlights neurosarcoidosis as an important consideration in the differential diagnosis of recurrent ICH associated with venous abnormalities."

"We present the case of a child with myoclonus-dystonia (MD) who was mistaken for having stuttering and responded to oral zonisamide therapy. An 11-year-old boy presented with a 3-month history of speech-induced myoclonus, dystonia, and speech disfluency, with a positive family history in his father. A final diagnosis of MD was made, and the child responded to zonisamide. MD is a treatable form of neurogenic stuttering. It may mimic stuttering, and detailed analysis of the phenomenology and the evaluation of family history may help establish the diagnosis. A trial of zonisamide may be considered in the treatment of this disabling condition."

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