Atypical idiopathic <scp>NBIA</scp> (neurodegeneration with brain iron accumulation) associated with treatment‐resistant bipolar mania responding to clozapine

Patwal, Rahul; Pai, Naveen Manohar; Ganjekar, Sundarnag; Udupi, Gautham Arunachal; Mailankody, Pooja; Mangalore, Sandhya; Muralidharan, Kesavan; Desai, Geetha

doi:10.1111/bdi.13262

Cited by 2 publications

(1 citation statement)

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“…In literature a variety of others symptoms are reported, including internal strabismus 43 44 and adult-onset psychosis. 45 46…”

Section: Clinical Aspectsmentioning

confidence: 99%

Schizencephaly: Etiopathogenesis, Classification, Therapeutic, and Rehabilitative Approach

Tosto,

Fichera,

Zanghì

et al. 2024

Journal of Pediatric Neurology

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Schizencephaly is an uncommon anomaly in neuronal migration characterized by complete clefts that extend from the pia mater to the ependymal surface of the ventricular system. These clefts are encompassed by displaced gray matter and filled with cerebrospinal fluid. Typically, they are found most often in the frontal lobe or the area around the lateral sulcus and can occur on one or both sides. The size, location, and type of these clefts carry significant clinical and prognostic implications. Moreover, they are frequently associated with other central nervous system malformations, including the absence of the septum pellucidum, septo-optic dysplasia, optic nerve hypoplasia, pachygyria, polymicrogyria, cortical dysplasia, heterotopia, and dysplasia of the corpus callosum. Occurrence of schizencephaly is almost always sporadic but its etiopathogenesis is yet to be fully understood. Most likely environmental factors, including exposure to teratogens, viral infections, and maternal factors, operate jointly with genetic defects. To date COL4A1, EMX2, SHH, and SIX3 are the genes identified as possible pathogenetic target. It is interesting to notice that schizencephaly is commonly seen in abandoned or adopted children, as proof of causative effect of intrautero insults. Clinical presentations widely vary and symptoms include a spectrum of cognitive impairment, limb paresis/tetraparesis, and epileptic seizures either with early or late onset; anyway, none of these symptoms is ever-present and patients with schizencephaly can also have normal neurocognitive and motor development. Diagnostic gold standard for schizencephaly is magnetic resonance imaging, which allows to identify and characterize typical clefts. Treatment of schizencephaly is symptomatic and supportive and depends on the severity of morbidity resulting from the malformation. Therapy includes antiepileptic drugs, psychomotor rehabilitation, and in selected cases surgical approach.

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“…In literature a variety of others symptoms are reported, including internal strabismus 43 44 and adult-onset psychosis. 45 46…”

Section: Clinical Aspectsmentioning

confidence: 99%