A patient with ossification of the yellow ligament and ventriculomegaly with 22q11.2 deletion syndrome undiagnosed until adulthood

Ichinose, Yuichi; Kurita, Takafumi; Satake, Akane; Natori, Takahiro; Shindo, Kazumasa; Takiyama, Yoshihisa

doi:10.1016/j.heliyon.2020.e05600

Cited by 4 publications

(1 citation statement)

References 4 publications

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“…Several disorders were reported to be associated with spinal ligament ossification, such as diabetes mellitus ( Bakhsh et al, 2019 ; Kobashi et al, 2004 ), obesity ( Kobashi et al, 2004 ), hypoparathyroidism ( Ichinose et al, 2020 ; Sohail et al, 2018 ), hereditary fibroblast growth factor (FGF) 23-related hypophosphatemic rickets/osteomalacia ( Karaplis et al, 2012 ; Kato et al, 2022 ; Kato et al, 2021 ) (previously known as vitamin D-resistant rickets ( Lee et al, 2012 )), and myotonic dystrophy ( Ishizawa et al, 2014 ; Kinoshita et al, 1997 ). Regarding multifactorial inheritance, in 2014, a genome-wide association study (GWAS) revealed several susceptibility genes for OPLL ( Nakajima et al, 2014 ).…”

Section: Introductionmentioning

confidence: 99%

Incidence of ossification of the spinal ligaments in acromegaly patients

Hoshino

Hidaka²,

Katô³

et al. 2022

Bone Reports

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Section: Introductionmentioning

confidence: 99%

Incidence of ossification of the spinal ligaments in acromegaly patients

Hoshino

Hidaka²,

Katô³

et al. 2022

Bone Reports

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Phenotype of patients with late diagnosis of 22q11 deletion: a review and retrospective study

Loh,

Schildkraut,

Byrnes

et al. 2024

Internal Medicine Journal

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BackgroundChromosome 22q11.2 deletion syndrome (22q11DS) is the most common microdeletion syndrome, typically presenting in neonates with congenital cardiac anomalies, hypocalcaemia and thymic hypoplasia. Some patients are diagnosed later in adolescence and adulthood, with less known about the clinical phenotype of these patients.AimTo summarise key clinical features in cases of 22q11DS diagnosed during adolescence and adulthood.MethodsThis is a retrospective cohort study of 22q11DS patients diagnosed after 13 years of age over 2010–2021, with a literature review of published cases highlighting other late diagnoses. The study was performed in a large multicentre tertiary health network in Melbourne, Australia. Patients diagnosed with 22q11DS after the age of 13 years were included in the study. Main outcome measures were key clinical features in cases of late diagnosis of 22q11DS.ResultsA literature search yielded 53 published case reports and one cohort study for review (62 subjects). Additionally, 10 cases of late diagnosis of 22q11DS were identified through a retrospective electronic medical chart review. Findings suggest that intellectual disability and learning difficulties, hypocalcaemia with hypoparathyroidism and facial dysmorphism remain key features in patients with a late diagnosis of 22q11DS, with hypocalcaemia being the most common presentation leading to diagnosis. Patients diagnosed in adulthood may lack classical clinical features of congenital cardiac anomalies and thymic hypoplasia. Immunological consequences of 22q11DS are also an important late‐onset consideration. Atypical features may include basal ganglia calcification.ConclusionsChromosome 22q11DS has diverse clinical features and a highly variable phenotype, likely contributing to underdiagnosis and later diagnoses.

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Hypoparathyroidism and late-onset hypogonadism in an adult male with familial 22q11.2 deletion syndrome: a case report with 3-year follow-up and review of the literature

Chen

Yang

et al. 2022

BMC Endocr Disord

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Background 22q11.2 deletion syndrome (DiGeorge syndrome) is associated with multiple organ dysfunctions such as cardiac defects, immunodeficiency, and hypoplasia of parathyroid glands. Moreover, the phenotype of 22q11.2 DS has clinical variability and heterogeneity. Case presentation In this report, we present the case of a 35-year-old patient with a past medical history that included recurrent infections, mild learning difficulties in childhood, pediatric obesity, and cataract. He was admitted to the endocrinology department for the management of hypogonadism and hypocalcemia. During the 3-year follow-up, the patient gradually developed primary hypoparathyroidism, hypogonadism, chronic renal failure, and heart failure, and his medical condition deteriorated. Meanwhile, in order to improve clinicians’ awareness of the endocrine manifestations of adult 22q11.2 DS and reduce missed diagnoses, we reviewed 28 case reports of adult 22q11.2 DS to analyze the clinical characteristics. Discussion Here, we report the case of a young man diagnosed with 22q11.2 DS presented a rare combination of multiple endocrine disorders. This is the first time that a patient with 22q11.2DS had late-onset hypogonadism caused by primary testicular failure combined with decreased pituitary gonadotropin reserve in a patient with 22q11.2DS.

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A patient with ossification of the yellow ligament and ventriculomegaly with 22q11.2 deletion syndrome undiagnosed until adulthood

Cited by 4 publications

References 4 publications

Incidence of ossification of the spinal ligaments in acromegaly patients

Incidence of ossification of the spinal ligaments in acromegaly patients

Phenotype of patients with late diagnosis of 22q11 deletion: a review and retrospective study

Hypoparathyroidism and late-onset hypogonadism in an adult male with familial 22q11.2 deletion syndrome: a case report with 3-year follow-up and review of the literature

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