case 1: description · referral glucogenosis or mitochondrial beta-oxidation deficiency rd-connect...
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![Page 1: Case 1: description · Referral Glucogenosis or mitochondrial beta-oxidation deficiency RD-Connect identifier: Case14C. Case 15: description Onset Infantile onset Global pace of progression](https://reader034.vdocuments.us/reader034/viewer/2022050414/5f8a669179b30f78f4345afd/html5/thumbnails/1.jpg)
Case 1: description
Onset Congenital
Global pace of progression
Progressive (slow)
Main clinical features • Neonatal hypotonia• Distal arthrogryposis• Inability to walk• Recurrent lower respiratory
tract infections
Gender Male
Age 5 years
Referral Congenital myasthenicsyndrome
RD-Connect identifier: Case1C
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Case 2: description
Onset Adult
Global pace of progression
Progressive
Main clinical features • Progressive visual loss• Scotoma• Abnormality of retinal
pigmentation
Gender Male
Age 38 years
Referral Macular dystrophy
RD-Connect identifier: Case2C
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Case 3: description
Onset Juvenile
Global pace of progression
Progressive
Main clinical features • Muscle weakness• Dystrophic muscle biopsy• Quadriceps muscle atrophy• Myalgia
Gender Male
Age 16 years
Referral Muscular dystrophy
RD-Connect identifier: Case3C
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Case 4: description
Onset Infantile
Global pace of progression
Progressive
Main clinical features • Microcephaly• Epileptic encephalopathy• Intellectual disability• Motor deterioration
Gender Male
Age 6 years
Referral Mitochondrial disorder
RD-Connect identifier: Case4C
Consanguinity
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Case 5: description
Onset Childhood
Global pace of progression
Progressive
Main clinical features • Muscle cramps• Seizures• Paresthesia• Renal insuficienty
Gender Male
Age 3 years
Referral Muscular dystrophy
RD-Connect identifier: Case5C
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Case 6: description
Onset Adult
Main clinical features • Breast carcinoma• Neoplasm of the breast• NO Decreased fertility• NO Colon cancer
Gender Female
Age 35 years
Referral Breast Cancer
RD-Connect identifier: Case6C
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Case 7: description
Onset Childhood
Main clinical features • Neoplasm of the colon• Leukocytosis• Lymphoma• Basal cell carcinoma• Cafe-au-lait spot
Gender Male
Age 3 years
Referral Inherited cancer-predisposing syndrome
RD-Connect identifier: Case7C
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Case 8: description
Onset Adult
Main clinical features • Multiple lipomas• Colon cancer• Multiple gastric polyps• Adenocarcinoma of the
colon• Fibrosarcoma
Gender Male
Age 43 years
Referral Inherited digestive cancer-predisposing syndrome
RD-Connect identifier: Case8C
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Case 9: description
Onset Juvenile
Main clinical features • Neurofibromas• Neurofibrosarcoma• Cafe-au-lait spot• Hypertelorism
Gender Male
Age 13 years
Referral Inherited cancer-predisposing syndrome
RD-Connect identifier: Case9C
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2 months
Case 10: description
Onset 2 months
Main clinical features
• Growth retardation• Hypotonia• Microcephaly• Encephalopathy• Lactic acidosis• MRI: white matter atrophy and demyelination• Low PDH activity• No microscopic alterations (muscular biopsy)
Gender Female
Age Deceased 2 years
Referral Lipoic acid synthesis defect?
RD-Connect identifier: Case10C
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2 months
Case 11: description
Onset 2 months
Main clinical features
• Hyperammonemia• Vomiting• Diarrhoea• Aminoacids and orotic acid suggestive of urea cycle disorder• Previous episodes of vomiting and diarrhoea
Gender Male
Age 2 months
Referral Hyperammonemia
RD-Connect identifier: Case11C
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2 months
Case 12: description
Onset First month of age
Main clinical features
• Microcephaly• Retinopathy• Dilated cardiomyopathy• Generalyzed hypotonia• Myopathy• Seizures• Cataracts• High lactate and slight elevation of 3-methylglutaconic acid• Low complex IV activity and normal complexes II and III activities• MRI: white matter microhemorrhages
Gender Female
Age Died at 1 year of age due to apnoea
Referral Mitochondrial disease
RD-Connect identifier: Case12C
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2 months
Case 13: description
Onset Neonatal
Main clinical features
• Neonatal hypotonia• Lower limbs spasticity• Nuclear punctate cataracts both eyes • Poor head control• Generalized developmental delay with psychomotor regression. Absence
of language• High lactate in LCR, normal organic acids, Aminoacids, acylcarnitines,
neurotransmitters. CoQ10 deficiency• Low pyruvate oxidation rates, low PDH
Gender Male
Age 1,5 years of age
Referral Energy metabolism alteration
RD-Connect identifier: Case13C
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2 months
Case 14: description
Onset Childhood
Main clinical features
• Rhabdomyolysis• Lower limb pain• Myoglobinuria after exercise• HyperCKemia
Gender Female
Age 13 years
Referral Glucogenosis or mitochondrial beta-oxidation deficiency
RD-Connect identifier: Case14C
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Case 15: description
Onset Infantile onset
Global pace of progression
Progressive
Main clinical features • Rhabdomyolysis• Metabolic acidosis• Seizures• Global developmental delay• Ventricular tachycardia
Gender Male
Age 4 years
Referral Metabolic diseases with epilepsy
RD-Connect identifier: Case15C