Long-term evolution of eight Spanish patients with CDG type Ia: Typical and atypical manifestations

Pérez‐Dueñas, Belén; García‐Cazorla, Àngels; Pineda, Merçè; Póo, Pilar; Campistol, Jaume; Cusí, V.; Schollen, E; Matthijs, Gert; Grünewald, Stéphanie; Briones, Paz; Pérez‐Cerdá, Celia; Artuch, Rafael; Vilaseca, M. A.

doi:10.1016/j.ejpn.2008.09.002

Cited by 48 publications

(47 citation statements)

References 37 publications

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“…10,18 In this report, we describe an additional case of a patient who experienced an intracerebral hemorrhage requiring neurosurgical intervention and was diagnosed with PMM2 deficiency during the postoperative course. The congenital disorder of glycosylation characterized by a deficiency of phosphomannomutase 2 (PMM2-CDG) is the most common variant of congenital disorders of glycosylation.…”

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confidence: 96%

“…In that case, levels of the patient's coagulation factors IX and XI and AT III were reduced, and multivisceral involvement was confirmed by autopsy. 18 In a Scandinavian series, 10 another cerebral hemorrhage due to hypoprothrombinemia was evident in 1 child in the infantile alarming multisystem stage.…”

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confidence: 96%

“…10,18 One patient presented with thalamic and intraventricular bleeding on the 10th postnatal day, and a fatal outcome due to organ failure with cardiac arrest after 29 days was observed. In that case, levels of the patient's coagulation factors IX and XI and AT III were reduced, and multivisceral involvement was confirmed by autopsy.…”

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confidence: 99%

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Initial diagnosis of the congenital disorder of glycosylation PMM2-CDG (CDG1a) in a 4-year-old girl after neurosurgical intervention for cerebral hemorrhage

Stefanits¹,

Konstantopoulou

Kuess³

et al. 2014

PED

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The congenital disorder of glycosylation characterized by a deficiency of phosphomannomutase 2 (PMM2-CDG) is the most common variant of congenital disorders of glycosylation. Besides typical clinical features, such as dysmorphism and abnormal body fat distribution, coagulation abnormities often lead to thromboembolic and hemorrhagic events in these patients. However, only 2 cases of intracerebral bleeding in patients with PMM2-CDG have been described so far. A 4-year-old girl who initially presented with symptoms resulting from raised intracranial pressure underwent acute neurosurgical intervention for intracranial hemorrhage. The differential diagnoses after MRI included arteriovenous malformation and intraparenchymal brain tumor. However, clinical investigations promoted the diagnosis of PMM2-CDG, which was supported further by neuropathological findings and finally confirmed by isoelectric focusing and mutational analysis. No major complications or neurological deficits were evident after surgery, and the patient was able to attend an integrated kindergarten. Unexplained intracranial hemorrhage should raise suspicion of a metabolic disorder and should be discussed with specialists to rule out an orphan disease such as PMM2-CDG.

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confidence: 96%

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confidence: 96%

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Initial diagnosis of the congenital disorder of glycosylation PMM2-CDG (CDG1a) in a 4-year-old girl after neurosurgical intervention for cerebral hemorrhage

Stefanits¹,

Konstantopoulou

Kuess³

et al. 2014

PED

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“…Discussion PMM2-CDG is an autosomal recessive inherited disorder with an estimated incidence of 1:20,000 Schollen et al 2000). Due to the broad spectrum of clinical signs, including the very mild phenotypes recently described (Perez-Duenas et al 2009;Grunewald 2009), the disease is probably still underdiagnosed. Of the patients of our series, 75% are currently alive and near a third of them are adults enjoying a good quality of life.…”

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confidence: 99%

The Molecular Landscape of Phosphomannose Mutase Deficiency in Iberian Peninsula: Identification of 15 Population-Specific Mutations

et al. 2011

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PMM2-CDG is an autosomal recessive disorder and the most frequent form of congenital disorder of Nglycosylation, with more than 100 mutations identified to date. Sixty-six patients from 58 unrelated families were diagnosed as PMM2-CDG (CDG-Ia) based on clinical signs or because of a previous affected sibling. They all presented a type 1 serum transferrin isoform pattern, and, in most cases, the disease was confirmed by determining PMM2 activity in fibroblasts and/or lymphocytes. Residual PMM2 activity in fibroblasts ranged from not detectable to 60% of the mean controls. DNA and RNA were isolated from fresh blood or fibroblasts from patients to perform molecular studies of the PMM2 gene, resulting in the identification of 30 different mutations, four of them newly reported here

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“…In the long term, the neurological phenotype is the main cause of disability, cerebellar syndrome being the primary neurological finding [1,2]. However the natural history of the neurological impairment, including a quantification of the cerebellar syndrome, is largely unknown.…”

Section: Discussionmentioning

confidence: 99%

Quantitative assessment of the evolution of cerebellar syndrome in children with phosphomannomutase deficiency (PMM2-CDG)

Serrano

Cuadras

Diego

et al. 2017

European Journal of Paediatric Neurology

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Long-term evolution of eight Spanish patients with CDG type Ia: Typical and atypical manifestations

Cited by 48 publications

References 37 publications

Initial diagnosis of the congenital disorder of glycosylation PMM2-CDG (CDG1a) in a 4-year-old girl after neurosurgical intervention for cerebral hemorrhage

Initial diagnosis of the congenital disorder of glycosylation PMM2-CDG (CDG1a) in a 4-year-old girl after neurosurgical intervention for cerebral hemorrhage

The Molecular Landscape of Phosphomannose Mutase Deficiency in Iberian Peninsula: Identification of 15 Population-Specific Mutations

Quantitative assessment of the evolution of cerebellar syndrome in children with phosphomannomutase deficiency (PMM2-CDG)

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