In this case, it was seen that an elder sibling presented with lamellar cataract whereas the younger sibling presented with total cataract, concluding that though cataract is a common entity in Sengers syndrome, the type may vary. [ijo.in]

They presented with a combination of cardiomyopathy, cataract and skeletal muscle weakness. [content.iospress.com]

CCM may present in two forms, a neonatal lethal form or a chronic form. Hypertrophic cardiomyopathy is diagnosed at birth in half of the patients in both forms. [orpha.net]

Schmidt Biology 1986 The present chapter outlines the diversity of blue light (B) and near-UV effects and uses the term ‘B/UV photoreceptors’ to describe some physiological reactions of plants and fungi. [semanticscholar.org]

[…] and is required for efficient mitochondrial one-carbon metabolism. 61 Jackson TD...Stojanovski D 33476211 2021 23 Report of an Indian Family with Sengers Syndrome. 61 Aggarwal B...Gupta N 32852732 2021 24 A case report of children of the same family presenting [malacards.org]

• Fatigue

  Other features include easy fatigue, muscular hypotonia, and delayed motor development. Significant arrhythmia may occur in later stages of disease. No treatment currently available, genetic counselling necessary. [accessanesthesiology.mhmedical.com]

  Easy fatigability MedGen UID: 373253 •Concept ID: C1837098 • Finding Increased susceptibility to fatigue. [ncbi.nlm.nih.gov]

  Common symptoms include fatigue, muscle weakness, and floppiness (hypotonia). It is often seen following exercise that you develop lactic acidosis, which is a medical condition that requires prompt treatment. [en.wikipedia.org]

• Strabismus

  Strabismus MedGen UID: 21337 •Concept ID: C0038379 • Disease or Syndrome A misalignment of the eyes so that the visual axes deviate from bifoveal fixation. [ncbi.nlm.nih.gov]

  Nystagmus, strabismus, hypotonia, hyporeflexia and delayed motor development are occasional features. Marked lactic acidemia occurs with even limited muscular exertion. [rarediseases.info.nih.gov]

• Visual Impairment

  In one series only one eye recovered to 20/40 but the average postoperative acuity was in the range of 20/200 and virtually all students require special education in schools for the visually impaired. [disorders.eyes.arizona.edu]

  If it is not treated with corrective lenses or surgery, nearsightedness can lead to squinting, eyestrain, headaches, and significant visual impairment.\n\nNearsightedness usually begins in childhood or adolescence. [ncbi.nlm.nih.gov]

• Visual Impairment

  In one series only one eye recovered to 20/40 but the average postoperative acuity was in the range of 20/200 and virtually all students require special education in schools for the visually impaired. [disorders.eyes.arizona.edu]

  If it is not treated with corrective lenses or surgery, nearsightedness can lead to squinting, eyestrain, headaches, and significant visual impairment.\n\nNearsightedness usually begins in childhood or adolescence. [ncbi.nlm.nih.gov]

• Muscle Hypotonia

  The newborn had no obvious muscle hypotonia. At age 2 months, bilateral cataracts were noted and cataract phacoemulsification was performed at 3 months of age. [frontiersin.org]

• Headache

  If it is not treated with corrective lenses or surgery, nearsightedness can lead to squinting, eyestrain, headaches, and significant visual impairment.\n\nNearsightedness usually begins in childhood or adolescence. [ncbi.nlm.nih.gov]

  […] hair, nystagmus, failure to thrive PRC 1 [16] F c.221+1G>A c.1213C>T (p.Gln405*) Splice site Nonsense Alive/12 yrs + Birth + + – – PRC2 [5] F c.297+2T>C (p.Lys75Glnfs*12) c.1170T>A (p.Tyr390*) Splice site Nonsense Died/18 yrs + <1 yr – + – Recurrent headaches [content.iospress.com]

  Her other clinical features included failure to thrive, fatigue, recurrent headaches, osteopenia and premature ovarian failure. She died at the age of 18 months. [ojrd.biomedcentral.com]

Genetic testing may reveal autosomal recessive mutations in AGK and SLC25A4 and it should be considered early in diagnostic workup. [rarediseases.info.nih.gov]

• Neutropenia

  X-linked dilated cardiomyopathy with neutropenia, growth retardation, and 3-methylglutaconic aciduria. J. Pediatr. 1991;119:738–747. [PubMed] [Google Scholar] 25. Stepien G., Torroni A., Chung A.B., Hodge J.A., Wallace D.C. [ncbi.nlm.nih.gov]

  […] syndrome type 1, Otopalatodigital syndrome type 2, Terminal osseous dysplasia with pigmentary defects FOXC1 Axenfeld-Rieger syndrome, Iridogoniodysgenesis, Peters anomaly FOXH1 Congenital heart malformations, Holoprosencephaly G6PC3 Dursun syndrome, Neutropenia [genda.com.ar]

• Liver Biopsy

  Analysis of respiratory-chain complexes in the homogenate of a muscle biopsy showed reduction of all activities except for that of citrate synthase, which was elevated, whereas activities in fibroblasts and in a liver biopsy were normal. [ncbi.nlm.nih.gov]

Differential diagnosis[edit] Isolated ATP synthase deficiency Barth syndrome TMEM70 deficiency Treatment[edit] Surgery for cataracts may be needed. Medical treatment for cardiac failure will be required. Treatment is otherwise supportive. [en.wikipedia.org]

Prognosis[edit] About half the patients die within the first year of life. Because of its rarity, the prognosis for the chronic form is not well established but survival into adulthood has been reported. [en.wikipedia.org]

Etiology In the majority of CCM patients mutations (nonsense, frame-shift, start codon or splice site) in the AGKgene have been identified. [rarediseases.info.nih.gov]

Etiology In the majority of CCM patients mutations (nonsense, frame-shift, start codon or splice site) in the AGK gene have been identified. [orpha.net]

Epidemiology Prevalence of CCM is unknown; approximately 40 cases have been reported to date in disparate locations throughout the world. [rarediseases.info.nih.gov]

Summary Epidemiology Prevalence of CCM is unknown; approximately 40 cases have been reported to date in disparate locations throughout the world. [orpha.net]

Pathophysiology Mutation of the Acylglycerol Kinase (AGK) gene on 7q34. [accessanesthesiology.mhmedical.com]

Although the role of AGK mutations in cataractogenesis is unclear, some authors have raised the hypothesis that an impairment of lenticular lipid composition may be of pathophysiological significance in the etiology [18],[19]. [ojrd.biomedcentral.com]