| Demographic Data |
| Relation to Proband |
proband |
| Age at Sampling |
2 YR |
| Sex |
Male |
| Age of Onset(If not a control) |
11 MO |
| Age at Diagnosis(If not a control) |
18 MO |
| Racial Category |
White |
| Country |
GERMANY |
| |
| Data Elements |
| Clinical Element Type: General NIGMS Catalog Remarks |
| (Baseline) |
| Mutation Information |
| Gene, variant, consequence, and exon number: |
TRIO EXOME SEQUENCING OF BLOOD SAMPLE DNA DETECTED PATHOGENIC COMPOUND HETEROZYGOUS MUTATIONS IN THE SURF1 GENE: PATERNALLY INHERITED C.370G>A (P.GLY124ARG) AND MATERNALLY INHERITED C.751+1G>A (P.?); PARENTS ARE HETEROZYGOUS CARRIERS OF THE VARIANTS |
| Zygosity: |
Compound Heterozygous |
| Age of Symptom Onset and Age at Diagnosis |
| Age of Symptom Onset: |
11 MONTHS |
| Age at Diagnosis: |
DIAGNOSED AT 18 MONTHS OF AGE BY A GENETICIST |
| In Utero History Information |
| |
|
| Birth History Information |
| |
Failure to thrive
|
| Dysmorphic Features |
| |
|
| Neurological Symptoms |
| |
Hypotonia
|
| Additional Information: |
MUSCULAR HYPOTONIA |
| Optical and Audiological Symptoms |
| |
|
| Additional Information: |
SLIGHT CONVERGENT STRABISMUS; DIRECT PUPILLARY REFLEX AND INDIRECTLY IDENTIFIABLE ON BOTH SIDES |
| Musculoskeletal Symptoms |
| |
|
| Additional Information: |
HAIRY LEGS AND ARMS; NEUROMUSCULAR DISEASE |
| Developmental Milestones |
| |
Global developmental delay
|
| Additional Information: |
GROWTH DELAY |
| Gastrointestinal Symptoms |
| |
|
| Additional Information: |
POOR SUCK; POOR DRINKING; ABDOMINAL SKIN SLIGHTLY MARBLED; SURGERY: PEG (PERCUTANEOUS ENDOSCOPIC GASTROSTOMY) TUBE PLACEMENT |
| Genitourinary Symptoms |
| |
|
| Additional Information: |
DOUBLE KIDNEY ON THE RIGHT WITH NO EVIDENCE OF URINARY TRACT DISORDER; LIVER SOMEWHAT ENLARGED; SECONDARY SPLEEN IN THE HILUM AREA; SMALL SCROTUM, PRONOUNCED PRE-PUBIC SWELLING, LEFT HADEN PALPABLE IN SCROTUM, RIGHT HADEN NOT PALPABLE |
| Respiratory and Cardiovascular Symptoms |
| |
Breathing irregularities
|
| Additional Information: |
SLIGHTLY STRAINED BREATHING; LUNGS ON THE SAME SIDE WHEN VENTILATED WITH BRONCHOVESICULAR BREATH; THROAT SLIGHTLY RED; TONSILS HYPERPLASTIC ON BOTH SIDES |
| Cognitive and Behavioral Symptoms |
| |
|
| Additional Information |
| Testing Performed |
| Respiratory and Cardiovascular Testing: |
ECHOCARDIOGRAPHY |
| Cognitive and Behavioral Testing: |
MRI REVEALED FOCAL T2 HYPERINTENSE BASAL GANGLIA LESION, SOME SIGNAL ALTERATIONS, PARTICULARLY IN THE DORSAL MEDULLA OBLONGATA AS WELL AS IN THE PUTAMINA ON BOTH SIDES |
| Metabolic, Hematologic, and Endocrinologic Testing: |
INCREASED SERUM LACTATE; CHLORIDE CONCENTRATION 20/9 MMOL/L WITH SUFFICIENT SWEAT; KAPOOR BLOOD GAS ANALYSIS: PH 7.43, PCO2 18 MMHG, HCO3 11.9 MMOL/L, BE 10.2 MMOL/L, GLUCOSE 103 MG/DL, LACTATE 4.4 MMOL/LMITOCHONDRIAL DISEASE; INITIAL BLOOD GAS ANALYSIS SHOWED CLEAR LACTIC ACIDOSIS WHICH DECREASED UNDER CONTINUOUS INTRAVENOUS FLUID REPLACEMENT; PIERCED LUMBAR PUNCTURE SHOWED NO INCREASED LACTATE |
| Uncategorized Testing: |
DURING EXAM AROUND 1 YEAR OF AGE, BODY WEIGHT: 8KG (<1ST PERCENTILE); BODY LENGTH 80 CM (17TH PERCENTILE); BODY TEMP 36.8C, HEART RATE 128/MIN, OXYTEN SATURATION IN ROOM AIR 100%; ABDOMINAL SONOGRAPHY |
| Treatments and Assistive Devices |
| |
Physical therapy
Orthotics
|
| Medications |
| |
HIGH DOSES OF BIOTIN, THIAMINE, RIBOFLAVIN AND VITAMIN B; TAKING BOTH BIOTIN AND THIAMINE HAS IMPROVED THE MUSCLE TONE |
| Family History |
| |
TRIO EXOME SEQUENCING REVEALED THAT THE PARENTS ARE HETEROZYGOUS CARRIERS OF THE SURF1 MUTATIONS THAT THIS CHILD HAS; MOTHER, GM28017 (FIBRO), CARRIES THE C.751+1G>A (P.?) MUTATION IN THE SURF1 GENE, AND THAT THE FATHER (NOT IN REPOSITORY) CARRIES THE C.370G>A (P.GLY124ARG) MUTATION. |
| Remarks |
See "Phenotypic Data" Tab. |