Unique and abnormal subependymal pseudocysts in a newborn with mitochondrial disease

Abstract

Neonatal mitochondrial disease is occasionally observed in patients with intraventricular cysts in the brain. Atypical morphology is rarely seen in these cysts. Here, we report a case of neonatal lethal mitochondrial disease with IBA57 gene mutation. We have, for the first time, described a subependymal pseudocyst (SEPC) with a fluctuating membrane. Our findings suggest that SEPCs with fluctuating membranes can be a potential diagnostic indicator of neonatal mitochondrial disease.

Phenotypic spectrum of iron-sulfur cluster assembly gene IBA57 mutations: c.286T>C identified as a hotspot mutation in Chinese patients with a stable natural history

“…Our cases demonstrated a phenotype characterized by developmental regression, coupled with a stable follow-up outcome, in keeping with Jie Zhang reported in 2019 [27]. Cases harboring the p.G104C and p.Q314P variants presented with a neonatal subtype, when combined with a complete loss-of-function allele, a severe phenotype was observed [5,6,11,14,17]. These variants appear to signi cantly impair IBA57 function.…”

“…A total of 72 cases from 51 families harboring IBA57 variants have been reported. After excluding incomplete and duplicated data, clinical and genetic information was available for 50 patients (35 with MMDS3 and 15 with SP74) [3,5,[7][8][9][10][11][12][13][14][15][16][17][18][19][20][21][22][23]. Including our cases, a total of 61 patients were nally enrolled for statistical analysis (Fig.…”

Multiple Mitochondrial Dysfunction Syndrome Type 3: A Likely Pathogenic Homozygous Variant Affecting a Patient of Cuban Descent and Literature Review

“…Hypotonia was present in 91.7% (11/12) of patients when explicitly mentioned and was the presenting sign at birth for three patients [ 1 , 13 ]. Intellectual disability was present in 80% (12/15) of patients.…”

“…Functional IBA57 is necessary for the maturation of cubane [4Fe-4S] clusters found in complexes I and II of the respiratory chain, mitochondrial aconitase, as well as lipoic acid synthase, which is required for lipoylation of pyruvate dehydrogenase and alpha ketoglutarate dehydrogenase [ 8 , 9 ]. Biallelic pathogenic variants in the IBA57 gene have been shown to cause a spectrum of diseases, including multiple mitochondrial dysfunction syndrome type 3 (MMDS3) in 52 patients [ 1 , 10 , 11 , 12 , 13 , 14 , 15 , 16 , 17 , 18 , 19 , 20 , 21 ] as well as a SPOAN (OMIM# 609541)-like phenotype in 11 members of a single family [ 22 ]. MMDS3 most commonly manifests in late infancy with regression of psychomotor milestones and white matter signal abnormalities on MRI, often with progression to a cavitating leukoencephalopathy, a radiographic hallmark of mitochondrial encephalopathies [ 23 , 24 ].…”

Tongue Root Cyst as a Manifestation of the Variant m.3243A>G

“…Cysts in MIDs have been reported in various organs, including the cerebrum, liver, kidneys, pancreas, thyroid gland, ovaries, and bones [ 2 - 4 ]. Recently, subependymal pseudocysts have been reported in a neonate with a MID due to a variant in IBA57 [ 5 ]. White matter lesions together with well-delineated cysts have also been reported in a 1-year-old male with a MID due to biallelic variants in ISCA2 [ 6 ].…”