| Demographic Data |
| Relation to Proband |
proband |
| Age at Sampling |
5 YR |
| Sex |
Male |
| Age of Onset(If not a control) |
2 MO |
| Age at Diagnosis(If not a control) |
2 YR |
| Racial Category |
White |
| Country |
ARGENTINA |
| |
| Data Elements |
| Clinical Element Type: General NIGMS Catalog Remarks |
| (Baseline) |
| Mutation Information |
| Gene, variant, consequence, and exon number: |
NEXT GENERATION SEQUENCING OF A LEIGH DISEASE PANEL OF 82 GENES REVEALED COMPOUND HETEROZYGOUS MUTATIONS IN EXON 9 OF THE SURF1 GENE, C.834G>A (P.W278*) AND C.845_846DELCT (P.S282CFS*9) |
| Zygosity: |
Compound Heterozygous |
| Age of Symptom Onset and Age at Diagnosis |
| Age of Symptom Onset: |
2 MONTHS |
| Age at Diagnosis: |
2 YEARS |
| In Utero History Information |
| |
|
| Birth History Information |
| |
Failure to thrive
|
| Dysmorphic Features |
| |
|
| Additional Information: |
DIFFUSE HYPERTRICHOSIS AT 16 MONTHS |
| Neurological Symptoms |
| |
Hypotonia
|
| Additional Information: |
SEVERELY LAX AND GENERALIZED HYPOTONIA FROM 16 MONTHS; CONTINUED SEVERE HYPOTONIA AND WEAKNESS FROM 3 YEARS |
| Optical and Audiological Symptoms |
| |
|
| Musculoskeletal Symptoms |
| |
Kyphosis
|
| Additional Information: |
GENU RECURVATUM; DECREASED MUSCULAR STRENGTH; DECREASED BONE MINERAL CONTENT |
| Developmental Milestones |
| |
Global developmental delay
|
| Additional Information: |
AT 16 MONTHS: STABLE SITTING POSITION WITH DORSAL KYPHOSIS, STAND ALONE WITH LUMBAR LORDOSIS, REQUIRES HAND TO WALK WITH INSTABILITY |
| Gastrointestinal Symptoms |
| |
|
| Additional Information: |
PRESENTED DURING THE FIRST YEAR WITH PERSISTENT VOMITING THAT LEAD TO DEHYDRATION |
| Genitourinary Symptoms |
| |
|
| Respiratory and Cardiovascular Symptoms |
| |
|
| Additional Information: |
INCREASED RESPIRATORY INFECTIONS FROM 2.9 YEARS OLD; |
| Cognitive and Behavioral Symptoms |
| |
|
| Additional Information: |
AMIMIA AT 16 MONTHS |
| Additional Information |
| Uncategorized Symptoms: |
FISH ANALYSIS REVEALED A NORMAL KARYOTYPE OF 46, XY |
| Testing Performed |
| Neurological Testing: |
BRAIN MRI HYPERINTENSE IMAGES IN T2/FLAIR AND DWI OF PUTAMEN AND PERLAQUEDUCTAL GRAY MATTER OF BRAIN STEM, SUBTHALMIC NUCLEI AND DETATE NUCLEI |
| Metabolic, Hematologic, and Endocrinologic Testing: |
GCMS SHOWED MILD ELEVATION OF CITRIC ACID AND 3OH ADIPIC ACID, NORMAL LACTIC ACID AT FAST (2.01 MMOL/L) AND MILD ELEVATION AFTER MEAL (3.42 MMOL/L), DECREASED FREE (20 UMOL/ML) AND TOTAL CARNITINE (31 UMOL/ML) |
| Treatments and Assistive Devices |
| |
Physical therapy
Speech therapy
|
| Medications |
| |
IDEBENONE; THIAMINE; CARNITINE; RIBOFLAVIN; NUTRITIONAL SUPPLEMENTS (FERRO SULFATE, FOLIC ACID, NA BICARBONATE); INCREASED CALORIC AND PROTEIN INTAKE BY NOCTURNAL NASOGASTRIC DRIP MILDLY IMPROVED THRIVE, WHILE MILD KETOGENIC DIET DETERIORATED THRIVE AND INDUCED METABOLIC ACIDEMIA |
| Family History |
| Remarks |
See Phenotypic Data tab. Clinically affected; has one affected sibling in family 3519: Unaffected carrier mother is GM28035 (fibro), Unaffected carrier father is GM28036 (fibro), affected brother is GM28033 (fibro). |