An unusual presentation of developmental delay and intellectual disability child . Child present at emergency with severe pallor and abdominal distension with positive history of hematesis and melena 7 days back. Child is hypotonic since infancy , respiratory distress in infancy,can not walk or speak till 9 years of age.on examination facies is dismorphic- broad forehead, arched eyebrows,ptosis,hypertelororism, protrude tongue, high arched palate. Eye examination right sided exotropia, horizontal nystagmus, cerebellar sign positive- nystagmus, overshooting present,pendular knee jerk present, heel to seen test abnormal,MRI molar teeth sign

2. PRESENTATION
• 10 years 5 months old male child presented at emergency at night
due to severe pallor for 10 days and abdominal distension for 5 days.
History of hematemesis and melena 7 days back

3. ON EXAMINATION
:VITALS: Temperature -afebrile pulse rate- 112/mins
BP -90/60 mmHg( TBP -112/66) Pulse Volume -LOW
RR -22/mins Spo2 - 94% in room air
• General surveys: ABSENT- clubbing PALLOR - SEVERE
cyanosis
icterus
edema

4. • PER ABDOMEN - LEFT LOBE OF LIVER PALPABLE, 2 CM BELOW
STERNUM
• HUGE - SPLENOMEGALY , FIRM IN CONSISTANCY,NON TENDER ; TIP
PALPATED IN THE MIDLINE AT 8CM BELOW LCM, SPLENIC NOTCH
PALPABLE
CHILD SHIFTED TO THE PICU

5. INITIAL MANAGEMENT
• NS BOLUS @ 20ML /KG OVER 30MINS
F/B
• MAINTANCE FLUID STARTED
• PRBC REQUITION DONE

6. INITIAL INVESTIGATION
• COMPLETE BLOOD HEMOGRAM: WBC -3400/cmm,HB-6.1gm%
PLATELETS-83000/cmm
• LFT- ELEVATED LIVER ENZYME: AST- 321 U/L
ALT- 270 U/L
ALP- 279U/L
• PT-INR- MILDLY DERANGE: PT -16 SEC (13.5-15.5 SEC)
INR- 1.20(0.8-1.1)
• ANTI -HCV,HIV I & HIV II- NON REACTIVE
• RFT - WNL

7. • USG WHOLE ABDOMEN WITH DOPPLER : HEPATOMEGALY WITH
HETEROGENIC ECHOTEXTURE
• SPLENOMEGALY
• DILATED PORTAL VEIN , DIAMETER-10.5 MM
• 2D ECHO SHOWS : NO CARDIAC ABNORMALITY

8. • ON DAY 3 ,AFTER INITIAL STABILIZATION CHILD SHIFTED TO WARD
UPPER GI ENDOSCOPY DONE:

9. FURTHER INVESTIONS
• SERUM CERULOPLASMIN: 32 MG/DL
• 24 HRS URINARY COPPER: 37 microgram/dl
• AUTOIMMUNE MARKERS: NEGATIVE
• LIVER BIOPSY SEND : REPORT WAITED

10. FURTHER EVALUATION
• MOTHER SAID : CHILD WAS NVD
• DELAYED CRIED AFTER BIRTH
• HYPOTONIA SINCE INFANCY
• IRREGULAR BREATHING PATTERN IN INFANCY
• CHILD COULD NOT WALK OR SPEAK TILL 9 YEARS OF AGE

11. ON PHYSICAL EXAMINATION
• HEIGHT:
• WEIGHT:
• HYPERTELORISM,
• A HIGH SET PALATE,PROTRUDE TONGUE
• DIFFICULTY IN SPEECH,
• MOTOR &MENTAL RETARDATION
• ATAXIC GAIT
• RIGHT SIDED EXTROPIA
• HORIZANTAL NYSTSGMUS

12. • ON SUSPICION OF GLOBAL DEVELOPMENTAL DELAY: MRI BRAIN
PLAN
• REPORT OF MRI BRAIN : SHOWS MOLAR TOOTH SIGN
SUGGESTIVE OF JOUBERT SYNDROME

13. DIAGNOSTIC CRITERIA OF JOUBERT SYN.
• NECESSORY CRITERIAS:-1.THE MOLAR TOOTH SIGN ON AXIAL VIEWS FROM
CRANIAL MRI STUDIES.
2.INTELLECTUAL IMPAIRMENT/DEVELOPMENTAL DELAY,OF VARIABLE DEGREE
3.HYPOTONIA IN INFANCY
• SUPPORTIVE CRITERIAS:- 1. IRREGULAR BREATHING PATTERN IN INFANCY
2. ABNORMAL EYES MOVEMENTS ( NYSTAGMUS AND/OR OCULOMOTOR APRAXIA)
REFERENCE:M.USTA,JOUBERT SYNDROME AND RELATED DISORDERS: A RARE CAUSE OF INTRAHEPATIC
PORTAL HYPERTENSION IN CHILDHOOD , European Review of Medical and pharmacological Sciences,2015;19:
2297-2300

14. FINAL DIAGNOSIS
IT IS A CASE OF JOUBERT SYNDROME WITH HEPATIC
INVOLVEMENT

15. JOUBERT SYNDROME
First described by Dr. Marie joubert in 1969.
• An autosomal recessive disorder with significant genetic
heterogenicity that is associated with cerebeller vermis hypoplasia
and the pontomesencephalic MOLAR TOOTH SIGN( a deepening of
the interpeduncular fossa with thick and straight superior cerebeller
peduncles
• Associated with hypotonia ,ataxia,characteristic breathing
abnormalities including episodic apnea and hyperpnea, global
developmental delay, nystagmus,strabismus, ptosis, and oculomotor
apraxia
• associated systemic features congenital heart disease,microcytic
kidney disease,liver fibrosis, polydactyl,tongue protrusion , soft tissue

16. TREATMENT AND PROGNOSIS
• UNFORTUNATELY ,THERE ARE CURRENTLY NO CURATIVE THERAPIES
FOR JOUBERT SYNDROMES
• ONLY SYMPTOMATIC MANAGEMENT AVAILABLE
• PROGNOSIS IS LARGELY DEPENDENT ON THE SEVERITY OF
INVOLVEMENT OF THE ORGAN SYSTEMS ,MOSTLY ON RENAL &
HEPATIC COMPLICATION.
• IF NOT TIMELY DIAGNOSED AND MANAGED ,REPRESENT THE MAJOR
CAUSES OF DEATH JOUBERT SYNDROMES PATIENTS.

17. THANK
YOU