| Demographic Data |
| Relation to Proband |
proband |
| Age at Sampling |
4 YR |
| Sex |
Male |
| Age of Onset(If not a control) |
2 YR |
| Age at Diagnosis(If not a control) |
3 YR |
| Racial Category |
White |
| Country |
AUSTRIA |
| |
| Data Elements |
| Clinical Element Type: General NIGMS Catalog Remarks |
| (Baseline) |
| Mutation Information |
| Gene, variant, consequence, and exon number: |
WHOLE EXOME SEQUENCING REVEALED COMPOUND HETEROZYGOUS AUTOSOMAL RECESSIVE (AR) MUTATIONS IN THE SURF1 GENE (NM_003172.3): C.397T>G (P.TYR133ASP) AND C.574_575INSCTGC (P.ARG192PROFS*8) |
| Zygosity: |
Compound Heterozygous |
| Age of Symptom Onset and Age at Diagnosis |
| Age of Symptom Onset: |
2 YEARS; MITOCHONDRIAL COMPLEX IV DEFICIENCY |
| Age at Diagnosis: |
3 YEARS, 8 MONTHS; DIAGNOSED BY A NEUROLOGIST |
| In Utero History Information |
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| Birth History Information |
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| Dysmorphic Features |
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| Neurological Symptoms |
| |
Hypotonia
Unstable gait
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| Additional Information: |
MILD TREMOR |
| Optical and Audiological Symptoms |
| |
Nystagmus
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| Additional Information: |
STRABISMUS CONCOMITANT CONVERGENCE |
| Musculoskeletal Symptoms |
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| Additional Information: |
SUSPICION OF RECURRENT CONVULSIONS, SHORT STATURE |
| Developmental Milestones |
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| Additional Information: |
DELAYED GROWTH; KINDERGARTEN LEVEL |
| Gastrointestinal Symptoms |
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| Additional Information: |
NAUSEA |
| Genitourinary Symptoms |
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| Respiratory and Cardiovascular Symptoms |
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| Cognitive and Behavioral Symptoms |
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| Additional Information: |
NEUROLOGICALLY NORMAL |
| Additional Information |
| Uncategorized Symptoms: |
LACTIC ACIDOSIS |
| Testing Performed |
| Neurological Testing: |
NORMAL CRANIAL MRI: TYPICAL LESIONS WHITE MATTER AND BRAINSTEM (BASAL GANGLIA EXCLUDED); ASSESSMENT: STRABISMUS CONVERGENS, MILD HEAD AND FINGER TREMOR, NO OTHER FOCAL NEUROLOGICAL DEFICITS; SUBTLE SYMMETRIC INCREASED SIGNAL-INTENSITY IN THE SUBSTANTIA NIGRA, THE INFERIOR COLLICLES AND IN THE DORSAL PONS; SIGNAL ELEVATION IN THE PRAE-EQUIDUCTAL GRAY MATTER; REGULAR SIGNAL INTENSITY OF THE MEDULLA; NORMAL PITUITARY GLAND; FINDINGS ARE CONSISTENT WITH A SUBTLE FORM OF MORBUS LEIGH. |
| Optical and Audiological Testing: |
VISION - CT: DISTANCE AND NEAR STRAB. CONV ALT PRAE OD; HIRSHCHBERG SIGN: +30; MOTILITY: RA + LE ABDUCTION OVER CENTERLINE POSSIBLE; DIAGNOSIS: RE + LE PARESIS OF N ABDUSENS |
| Treatments and Assistive Devices |
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| Additional Testing: |
THERAPY: PHYSIO, ERGO, HIPPOTHERAPY |
| Medications |
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STESOLID; SUPPLEMENTATION (THIAMINE, B VITAMINS, COENZYME Q, BIOTIN, CBD, ACETYL-CARNITIN, VITAMIN C, PQQ, ZINC, MAGNESIUM GLYCINATE); KIDS COMBI FLORA |
| Family History |
| |
FAMILY HISTORY: UNAFFECTED CARRIER MOTHER WITH C.397T>G (P.TYR133ASP) MUTATION IN SURF1 IS GM28077 (FIBRO); UNAFFECTED CARRIER FATHER WITH C.574_574INSCTGC (P.ARG192PROFS*8) MUTATION IN SURF1 IS GM28079 (FIBRO). |
| Remarks |
See "Phenotypic Data" Tab; Clinically affected; unaffected carrier mother with c.397T>G (p.Tyr133Asp) mutation in SURF1 is GM28077 (fibro); unaffected carrier father with c.574_574insCTGC (p.Arg192Profs*8) mutation in SURF1 is GM28079 (fibro). |