| Demographic Data |
| Relation to Proband |
proband |
| Age at Sampling |
2 YR |
| Sex |
Male |
| Age at Diagnosis(If not a control) |
2 YR |
| Racial Category |
White |
| Country |
USA |
| |
| Data Elements |
| Clinical Element Type: General NIGMS Catalog Remarks |
| (Baseline) |
| Mutation Information |
| Gene, variant, consequence, and exon number: |
SURF1, C.269 T>C P.(L90P) |
| Zygosity: |
Heterozygous |
| Other variants: |
SURF1, C.845_846DEL P.(S282CFS*9) |
| Age of Symptom Onset and Age at Diagnosis |
| Age of Symptom Onset: |
2 YEARS |
| Age at Diagnosis: |
2 YEARS |
| In Utero History Information |
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| Additional Information: |
NUCHAL CORD |
| Birth History Information |
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| Additional Information: |
HYPOSPADIAS |
| Dysmorphic Features |
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| Neurological Symptoms |
| |
Ataxia
Unstable gait
Basal ganglia damage
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| Additional Information: |
TREMOR, WORSENING GAIT, BILATERAL BASAL GANGLIA LESIONS |
| Optical and Audiological Symptoms |
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| Musculoskeletal Symptoms |
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| Developmental Milestones |
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Abnormal weight for age
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| Gastrointestinal Symptoms |
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Constipation
Gastrointestinal reflux
Eating difficulties
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| Additional Information: |
RECURRENT VOMITING, TUBE FEEDING, GERD, GASTROPARESIS |
| Genitourinary Symptoms |
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| Respiratory and Cardiovascular Symptoms |
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| Additional Information: |
CHRONIC ALLERGIES |
| Cognitive and Behavioral Symptoms |
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| Additional Information: |
DECREASED ENERGY LEVELS |
| Additional Information |
| Testing Performed |
| Neurological Testing: |
MRI SPINE: ENHANCEMENT OF SPINAL NERVE ROOTS. MRI BRAIN: SHOWED LESIONS CONSISTENT WITH LEIGH SYNDROME: 1) SYMMETRIC RESTRICTED DIFFUSION IN BILATERAL GLOBI PALLIDI, POSTERIOR PUTAMINA, BILATERAL SUBSTANTIA NIGRA, BILATERAL OCULOMOTOR NERVE NUCLEI, BILATERAL SUPERIOR AND INFERIOR CEREBELLAR PEDUNCLES, BILATERAL SUPERIOR AND OLIVARY NUCLEI 2) MILD T2 HYPERINTENSITY IN THE BODY OF THE BILATERAL CAUDATE NUCLEI AND ADJACENT CENTRUM SEMIOVALE 3) T2 HYPERINTENSITY AND CENTRAL GRAY MATTER OF THE CERVICAL SPINAL CORD. |
| Treatments and Assistive Devices |
| |
Occupational therapy
Physical therapy
Speech therapy
Wheelchair or ambulation devices
glasses
|
| Surgeries |
ADENOID SURGERY, GT SURGERY |
| Medications |
| |
HIZENTRA. MITO COCKTAIL (EACH 5ML DOSE CONTAINS TOCOPHEROL (10 IU), THIAMINE (25 MG), VIT B12(25 MCG), RIBOFLAVIN (25 MG), PYRIDOXINE (25 MG), PANTHOTHENATE (25 MG), CREATINE (1000MG), PABA (25MG), BIOTIN (5 MG), LEUCOVORIN (15 MG), FOLIC ACID (0.2 MG), UBIQUINOL (40 MG), NIACINAMIDE (25 MG), INOSITOL (25 MG), ACETYLCYSTEINE (100 MG)). XYZAL (2.5 MG). OMEPRAZOLE 2, OMEPRAZOLE 10, DIPHENHYDRAMINE, ACETAMINOPHEN. |
| Family History |
| Remarks |
See "Phenotypic Data" tab. Unaffected mom, who is a carrier is GM29881. |