Case Presentation

TANGO2-related metabolic
encephalopathy
 HPI
Nabiha is a 10 Y/O Indian/American girl K/C of
TANGO2 metabolic encephalopathy. Came to
the ER C/O vomiting with decreased oral intake
and level of activity to the point where she
couldn't walk anymore for 2 days with
intermittent fever responding to Ibuprofen. She
also had 2 episodes of diarrhea. All her
.symptoms started after eating outside
 Systemic Review
No headache, RN or sore throat -
No chest pain
No abdominal pain
No change in urine color or odor
 PMHx
Multiple hospital admissions with the similar
symptoms -1/year on average- treated with
observation and hydration
 FHx
ve consanguinity+
No other family member affected with similar
disease
ve FHx of genetic diseases-
 OB/GYN
FT, SVD, no NICU admission
 Vaccination
Up to date
 Development
Intellectual disability (cant write or read)
Speech and motor delay
Sever motor regression during crisis (inability to
walk)
 O/E
General: conscious, oriented
Vitally stable
CVS: S1, S2 + S0
Chest: clear
Abdomen: soft and lax
Neuro: normal power, tone
LABs
LABs
LABs
 ECG
Normal
 ?What is TANGO2
It is a gene on Chromosome 22 thought to be
involved in Golgi organization and protein
secretion
 Pattern Of Inheritance
Autosomal recessive
 ?What is TANGO2
:Acute crisis
Metabolic crises
Rhabdomyolysis
Cardiac arrhythmias
 Metabolic crises
Hypoglycemia
Elevated liver enzymes
Elevated CK and Troponin
Hyperammonemia and Hyperlactacidemia
 Rhabdomyolysis
Witch can lead to myoglobinuria and
subsequently AKI and renal failure
 Cardiac arrhythmias
Most commonly QT prolongation witch can
lead to ventricular arrhythmias
 Chronic Sx
Neurodevelopmental problems
Intellectual disability
Seizures
Problems coordinating voluntary movements
Dysarthria
Developmental regression
Hyperreflexia
Hypothyroidism
 Diagnosis
Diagnostic criteria have not yet been established
Molecular genetic testing
MRI shows reduced size of the cerebrum
EEG in patients who developed seizures
 Treatment
Multidisciplinary team
Metabolic crisis is a medical emergency that requires
prompt treatment hydration
Sodium bicarbonate-containing fluid may be
considered for sever acidosis
Electrolyte monitoring
Cardiac monitoring
Levothyroxine if patient has hypothyroidism
Anti epileptics with seizures
 Other treatments
Genetic counseling
Psychosocial support for the entire family
Occupational, physical, and speech therapy
Specialized learning programs
Thank you