French Canadian Leigh syndrome
LSFC

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Description from OMIM

The French Canadian type of Leigh syndrome is an autosomal recessive severe neurologic disorder with onset in infancy. Features include delayed psychomotor development, mental retardation, mild dysmorphic facial features, hypotonia, ataxia, and the development of lesions in the brainstem and basal ganglia. Affected individuals tend to have episodic metabolic and/or neurologic crises in early childhood, which often lead to early death (summary by Debray et al., 2011). For a phenotypic description and a discussion of genetic heterogeneity of Leigh syndrome, see 256000.



Prevalence of clinical parameters (%)







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Pubmed id number as a reference Organ system affected
Number of patients in the reference Percent affected patients (Between 0 and 1, eg. 0.1 = 10%)
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List of symptoms



Symptom/sign Organ system Percent affected Pubmed id Added on(yyyy-mm-dd) Edit/add reference
Developmental delay nervous 100 % 21266382 2014-07-28
Hypotonia nervous 100 % 21266382 2014-07-28
Brain stem pathology nervous 100 % 8392291 2014-07-28
Basal ganglia pathology nervous 100 % 8392291 2014-07-28
Steatosis digestive 93 % 8392291 2014-07-28
Midfacial hypoplasia skeletal 90 % 21266382 2014-07-28
Bossed forehead skeletal 88 % 21266382 2014-07-28
Broad nasal bridge skeletal 87 % 21266382 2014-07-28
Lactate accumulation circulatory 76 % 21266382 2014-07-28
Arched eyebrows integumentary 58 % 21266382 2014-07-28
Hypertelorism skeletal 56 % 21266382 2014-07-28
Hirsutism integumentary 54 % 21266382 2014-07-28
Tremor nervous 54 % 21266382 2014-07-28
Failure to thrive multi 52 % 21266382 2014-07-28
Ataxia nervous 48 % 21266382 2014-07-28
Strabismus nervous 35 % 21266382 2014-07-28
Synophrys integumentary 26 % 21266382 2014-07-28
Seizures nervous 18 % 21266382 2014-07-28
Basal ganglia pathology nervous 16 % 21266382 2014-07-28
Brain stem pathology nervous 16 % 21266382 2014-07-28
Stroke nervous 8 % 21266382 2014-07-28



List of references:


LRPPRC mutations cause a phenotypically distinct form of Leigh syndrome with cytochrome c oxidase deficiency.
François-Guillaume Debray, Charles Morin, Annie Janvier, Josée Villeneuve, Bruno Maranda, Rachel Laframboise, Jacques Lacroix, Jean-Claude Decarie, Yves Robitaille, Marie Lambert, Brian H Robinson, Grant A Mitchell,

The natural history of all known patients with French-Canadian Leigh disease (Saguenay-Lac-St-Jean cytochrome c oxidase deficiency, MIM220111, SLSJ-COX), the largest known cohort of patients with a genetically homogeneous, nuclear encoded congenital lactic acidosis, was studied.

Journal of medical genetics - Mar 2011



Clinical, metabolic, and genetic aspects of cytochrome C oxidase deficiency in Saguenay-Lac-Saint-Jean.
C Morin, G Mitchell, J Larochelle, M Lambert, H Ogier, B H Robinson, M De Braekeleer,

Thirty-four children with lactic acidosis and Leigh encephalopathy due to cytochrome C oxidase (COX) deficiency distributed in 28 families have recently been identified in northeastern Quebec, particularly in the Saguenay-Lac-Saint-Jean (SLSJ) region. The segregation analysis was consistent with an autosomal recessive mode of inheritance. The incidence was estimated at 1/2,063 live births between 1979 and 1990, and the carrier rate was estimated at 1/23 inhabitants in SLSJ. In SLSJ, the places of origin of the COX-deficient children and their parents did not show a clustered nonuniform distribution. The genealogical reconstruction of 54 obligate carriers identified 26 ancestors common to all of them. Twenty-two were 17th-century Europeans, suggesting that the COX-deficient gene was introduced in the French-Canadian population by early settlers. These results support the hypothesis of a founder effect for COX deficiency in northeastern Quebec. Clinical findings are reported for 15 of these COX-deficient patients, age 6 mo to 11 years. Moderate developmental delay, hypotonia, ataxia, strabismus, and mild facial dysmorphism were frequent. Eleven children died in episodes of fulminant metabolic acidosis. The patients had elevated blood and cerebrospinal fluid lactate levels, decreased blood bicarbonate levels, and normal blood pH. Leigh disease and microvesicular steatosis of the liver were present in all affected patients for whom postmortem examination was performed. This biochemically uniform group of patients showed a wide range of clinical severity.

American journal of human genetics - Aug 1993