Unusual association between lysinuric protein intolerance and moyamoya vasculopathy

Ghilain, Valérie; Wiame, Elsa; Fomekong, Edward; Vincent, Marie‐Françoise; Dumitriu, Dana; Nassogne, Marie‐Cécile

doi:10.1016/j.ejpn.2016.05.016

Cited by 6 publications

(3 citation statements)

References 18 publications

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“…This latter was definitively associated with diffuse coronaropathy. We are the first to report a cardiac involvement but another vascular disease, moyamoya vasculopathy, was recently described in LPI [42]. The cycle of low plasma levels of arginine resulting in NO depletion, decreased arterial and coronary vasodilatation and ultimately ischemia has already been described [43].…”

Section: Discussionmentioning

confidence: 99%

Update on Lysinuric Protein Intolerance, a Multi-faceted Disease Retrospective cohort analysis from birth to adulthood

Mauhin

Habarou

Gobin

et al. 2017

Orphanet J Rare Dis

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BackgroundLysinuric protein intolerance (LPI) is a rare metabolic disease resulting from recessive-inherited mutations in the SLC7A7 gene encoding the cationic amino-acids transporter subunit y+LAT1. The disease is characterised by protein-rich food intolerance with secondary urea cycle disorder, but symptoms are heterogeneous ranging from infiltrative lung disease, kidney failure to auto-immune complications. This retrospective study of all cases treated at Necker Hospital (Paris, France) since 1977 describes LPI in both children and adults in order to improve therapeutic management.ResultsSixteen patients diagnosed with LPI (12 males, 4 females, from 9 families) were followed for a mean of 11.4 years (min-max: 0.4-37.0 years). Presenting signs were failure to thrive (n = 9), gastrointestinal disorders (n = 2), cytopenia (n = 6), hyperammonemia (n = 10) with acute encephalopathy (n = 4) or developmental disability (n = 3), and proteinuria (n = 1). During follow-up, 5 patients presented with acute hyperammonemia, and 8 presented with developmental disability. Kidney disease was observed in all patients: tubulopathy (11/11), proteinuria (4/16) and kidney failure (7/16), which was more common in older patients (mean age of onset 17.7 years, standard deviation 5.33 years), with heterogeneous patterns including a lupus nephritis. We noticed a case of myocardial infarction in a 34-year-old adult. Failure to thrive and signs of haemophagocytic-lymphohistiocytosis were almost constant. Recurrent acute pancreatitis occurred in 2 patients. Ten patients developed an early lung disease. Six died at the mean age of 4 years from pulmonary alveolar proteinosis. This pulmonary involvement was significantly associated with death. Age-adjusted plasma lysine concentrations at diagnosis showed a trend toward increased values in patients with a severe disease course and premature death (Wilcoxon p = 0.08; logrank, p = 0.17). Age at diagnosis was a borderline predictor of overall survival (logrank, p = 0.16).ConclusionsAs expected, early pulmonary involvement with alveolar proteinosis is frequent and severe, being associated with an increased risk of death. Kidney disease frequently occurs in older patients. Cardiovascular and pancreatic involvement has expanded the scope of complications. A borderline association between increased levels of plasma lysine and poorer outome is suggested. Greater efforts at prevention are warranted to optimise the long-term management in these patients.

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Section: Discussionmentioning

confidence: 99%

Update on Lysinuric Protein Intolerance, a Multi-faceted Disease Retrospective cohort analysis from birth to adulthood

Mauhin

Habarou

Gobin

et al. 2017

Orphanet J Rare Dis

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“…These may be having a common pathophysiology, and there are also genetic loci mutations that would, in addition, indicate higher susceptibility for MMD. [ 19 20 21 ] In a 2-year-old girl presenting with early onset of moyamoya syndrome with underlying DS, the genetic variant RNF213 p.R4810K was identified. [ 21 ]…”

Section: Discussionmentioning

confidence: 99%

Down syndrome with moyamoya disease: A case series

et al. 2018

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Down syndrome (DS), resulting from trisomy 21, is a common cause of mental retardation. Around 20,000 babies with DS are born every year in India. There is an increased risk of cerebral infarction in children with DS, the common causes being thromboembolism secondary to atrioventricular canal defects, right-to-left shunting, myocardial dysmotility, or cardiac valvular abnormalities. Stroke due to other causes can also occur in patients with DS, and one of these is moyamoya disease. This can be diagnosed by magnetic resonance imaging and/or angiography in these patients. Here we report four cases of moyamoya disease in young patients with DS aged 2–3½ years, of a total of 500 cases with DS registered in the Genetic Clinic.

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“…We found five papers (5%) that described an association between moyamoya and metabolic disorders, including mucolipidosis II [ 36 ], protein S deficiency [ 37 ], CD59 deficiency [ 38 ], severe hyperhomocysteinemia [ 39 ], and lysinuric protein intolerance [ 40 ].…”

Section: Reviewmentioning

confidence: 99%

Western Moyamoya Phenotype: A Scoping Review

Miller¹,

Unda²,

Holland³

et al. 2021

Cureus

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Moyamoya, a rare angiographic finding, is characterized by chronic and progressive stenosis at the terminal end of the internal carotid artery, followed by collateralization of the cerebral vasculature at the base of the skull. Coined by Suzuki and Takaku in 1969, the term “moyamoya” means a “puff of smoke” in Japanese, a reference to the angiographic appearance of moyamoya collateralization. Moyamoya is most commonly found in East Asian countries, where much governmental and civilian effort has been expended to characterize this unique disease process. However, despite its rarity, the occurrence of moyamoya in Western countries is associated with significant divergence regarding incidence, gender, sex, age at diagnosis, clinical presentation, and outcomes. Here, we attempted to review the Western literature on moyamoya presentation using the PubMed database to characterize the Western phenotype of moyamoya. We were guided by the Preferred Reporting Items for Systematic Reviews and Meta-Analyses extension for scoping reviews (PRISMA-ScR). We reviewed papers generated from a search with keywords “moyamoya case report,” those reported from a Western institution, and those reported on a relevant association. Our scoping review demonstrated various clinical associations with moyamoya. Moreover, we summarized the demographic profile and clinical symptomatology, as well as reported disease associations to better elucidate the Western phenotype of moyamoya.

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Unusual association between lysinuric protein intolerance and moyamoya vasculopathy

Cited by 6 publications

References 18 publications

Update on Lysinuric Protein Intolerance, a Multi-faceted Disease Retrospective cohort analysis from birth to adulthood

Update on Lysinuric Protein Intolerance, a Multi-faceted Disease Retrospective cohort analysis from birth to adulthood

Down syndrome with moyamoya disease: A case series

Western Moyamoya Phenotype: A Scoping Review

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