Pediatrics case presentation 2024 jordan.pptx

Peds

1. Case Presentation Ruba Alzoubi MS6 Group D5 Noor Alkaabneh MS6 Group D5 Dima Almaaitah MS5 Group A5 Ahmad Alhadidi MS5 Group A5

2. Brief Introduction and profile Adam, a 15 Months Old toddler, lives in Ghour , with many past admissions due to recurrent history of pneumonia and gastroenteritis. Originally was scheduled for cleft palate repair surgery but was transferred to neurology clinic due to convulsions Was admitted via Pediatrics Neurology Clinic for follow-up investigations History was taken from his Mother who is the primary caregiver 2

3. Chief complaint 3 Convulsions and fever for 4 days duration 

4. HOPI The patient is a known case of unilateral cleft palate , congenital nasolacrimal duct obstruction , bilateral polydactyly , and dysmorphic features from birth. He presented to the neurology clinic as a check up prior to his cleft palate surgery, the physician noticed his fever and an abnormal movement and decided to admit him . The fever was undocumented , Intermittent and responsive to cold showers and he didn’t take antipyretics before admission . In the hospital, measured at 38.1°C orally. 4

5. The convulsion was sudden , bilateral, recurrent (four time per hour), and spontaneous without any trigger , myoclonic in nature last for few seconds. Not associated with up rolling of eye , cyanosis , change in level of consciousness or tongue biting. aborted spontaneously and its happened many times before since mother think that is normal . The episode are not followed by post ictal period , weakness or sleeping and the myoclonic jerk don’t progress to generalized tonic clonic . 5

6. The patient was complain of episodic Productive cough white in color without blood since two week increase at night, no aggravating or relieving factor and its associated with noisy ,rapid breathing and snoring while sleeping. No history of head trauma, no sweating , no rash, no vomiting, no diarrhea, and no blood in stool. the patient was sleep, irritable, and decrease in activity. There is a recurrent history of pneumonia and gastroenteritis. 6

7. Review of Systems GI: no mouth ulcer, no abdominal pain, no blood in stool, no hematemesis. CVS: no cyanosis, no oedema . CNS: no hearing or visual problem. MSS: No rash, no joint swelling. GU: No change in urine colour or frequency, no discharge, no previous infection. 7

8. Prenatal Mother was 46 year old when she gave birth, she is G11P9+2 No diet, no smoking, no alcohol during pregnancy Mom was committed to folic ,iron and multivitamins supplements. preeclampsia in this pregnancy , took aldomate 250*4/day CVA on the 1st trimester, 2nd month of pregnancy, took clexane 6000 I.U/d and aspirin Positive exposure to radiation in the 1st trimester, mom had a brain CT and MRI No gestational Dm , no TORCH , no vaginal bleeding No other complications 8

9. N atal Polyhydramnios, fetal distress, emergency C-section at 38 weeks. Birth weight: 4 kg. Apgar score: Crying but cyanotic. Admitted to NICU for 22 days due to TTA, aspiration of amniotic fluid, and cleft palate. 9

10. Post N atal Feeding: couldn’t be breast feed Weight gain: Insufficient, on the 3rd percentile still He passed muconium 10

11. Feeding current intake is seven bottles of 140 milliliter of PediaSure milk. He has never been breast- fed. He only takes milk There is no weaning because of his Clift palate . Weight gain was not sufficient so his physician prescribed PediaSure for him and as well be mentioned later he has very low weight gain he’s on the third percentile 11

12. Past medical The patient has multiple sinupulmonary infections ( 6 times a year ) Multiple Gastroenteritis ( 5 times a year ) there was no hospital admissions 12

13. Drugs/ Allergies No allergies, Was never on any continuous medication other than antibiotics for his recurring infections, the last AB was 3 months ago 13

14. Past Surgical He is surgically free. Patient was planned to have a plastic surgery and an ophthalmic surgery for his Clift palate and CNLDO but they got postponed due to his low weight 14

15. Immunization THE patient took all his assigned vaccinations On one month he received BCG 61 days he received DTP PCV, IPV, HIB and HBV On 91 days he received DTP PCV, OPV, HIB and HBV On 121 days he received DTP PCV, OPV, HIB and HBV On 10 m he received OPV and measles 1 year he received PCV and MMR 15

16. Developmental The patient is a 15 months old child that have a global developmental delay Gross motor The patient currently still have head leg. He holds his head up on ventral suspension. He also rolls he sits very briefly with support. He obviously can’t walk Noor he still have his primitive reflexes. Still on 6-3 months level Fine motor : the patient cannot hold anything in his hands. He does not have a pincer grasp. He have a general palmar grasp. Still on 6 months level 16

17. Developmental Social: the patient smiles responsively he can’t hold a bottle , he can’t put food in his mouth ( still on 1.5 M level ) but the patient get out of stranger anxiety he currently have separation anxiety Language: the patient does not understand the word No, he says Mam and his brothers name Eissa he does not even babble. He does not turn to his name. He turns his head to sound . (Still on 1.5 M level) 17

18. Family No consanguinity, negative for syndromic relevance. Father has diabetes mellitus and hypertension. All siblings are healthy 18

19. Social Parents aren’t educated they reached grade 10 only the dad is working the mom is stay at home mom both of them are smoking they live with their 9 children They have low financial state. 19

20. Physical Exam: Vitals Temperature: 38.1°C (measured orally). Heart Rate: 140 beats per minute, consistent with fever or distress. Respiratory Rate: Elevated at 40 breaths per minute, indicating respiratory distress. Blood Pressure: 90/60 mmHg, within normal range for age but needs monitoring. Oxygen Saturation: 92% on room air, suggesting mild hypoxia. 20

21. Physical Exam: General Appearance Overall Appearance: The patient appears ill and in visible distress, with notable pain and signs of respiratory distress. He is mouth breathing, producing a weak cry, and displaying hypo-activity. Hydration Status: The patient shows no signs of dehydration, with adequate skin turgor and moist mucous membranes. Position: The patient adopts a crossed legged position, which may indicate adductors hypertonicity. Eye Findings: Eyes are symmetrical in size and position, they are watery, with the patient unable to fully open them. 21

22. Physical Exam: Dysmorphic Features Forehead: Prominent with a significant forward projection, not frontal bossing, Eyebrows are normal Eyes: Slit-like and unable to open fully, even with pain. Excessive lacrimation and pus noted. Eyes appear larger than normal. Nose: Large and dysmorphic but not deviated. Nostril appearance is abnormal but functional. Lips: Upper lip is very small and thin; lower lip is normal. 22

23. Physical Exam: Dysmorphic Features, cont’ Cheeks: Puffy. Ears: Skin swelling around lobule bilaterally; one ear has a skin tag, raising concerns about potential renal abnormalities both ears are significantly smaller than normal with helix abnormalities Neck: Short. Jaw: Micrognathia (small jaw) and retrognathia (recessed jaw). Head appears microcephalic with an alopecia in the middle 23

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25. Physical Exam: skin Color: Not jaundiced nor pale or cyanosed. Rashes or Bruises: No rashes, bruising, nor abnormal pigmentation. Lesions: No lesions or ulcers observed. 25

26. Physical Exam: Cardiovascular Heart Sounds: Regular rate and rhythm, no murmurs, rubs, or gallops. Peripheral Pulses: Strong and equal bilaterally. Capillary Refill: Less than 2 seconds, indicating adequate perfusion 26

27. Physical Exam: Respiratory Inspection: Symmetrical chest movement, although breathing appears labored. Auscultation: Air Entry: Symmetrical but diminished bilaterally. Sounds: Presence of high-pitched crepitations and crackles in bilateral lung fields, more prominent at the bases. Percussion: Normal resonance, no areas of dullness. Palpation: No tenderness or masses detected. 27

28. Physical Exam: Gastrointestinal Inspection: No distention, no visible peristalsis, no visible masses except for an umbilical hernia. No mouth ulcers, there is a left sided unilateral cleft palate. Auscultation: Normal bowel sounds present in all quadrants. Palpation: Liver & Spleen: No hepatosplenomegaly . Masses: No palpable masses. Tenderness: Abdomen is soft, non-tender. Umbilical Hernia: Present and reducible, without signs of strangulation. 28

29. Physical Exam: Neurological Mental Status: not alert and is irritable, responsive to painful stimuli. Cranial Nerves: Nerves: CN II (Optic Nerve): Visual response is impaired; the patient is unable to track objects. To asses for retinal abnormalities a fundoscopy must be performed, CN III, IV, VI (Oculomotor, Trochlear, Abducens): Eye movements are limited due to structural abnormalities; the patient exhibits poor eye opening and inability to track objects. CN V (Trigeminal Nerve): Facial sensation appears normal. No asymmetry or muscle atrophy noted. 29

30. Physical Exam: Neurological CN VII (Facial Nerve): Mild facial asymmetry observed during crying; no significant weakness noted. CN VIII ( Vestibulocochlear Nerve): Hearing is intact; the patient responds to auditory stimuli and recognizes familiar voices. CN IX, X (Glossopharyngeal, Vagus Nerves): Swallowing is mildly impaired; slight difficulty observed during feeding, but no significant choking episodes. Gag reflex is present and the impaired swallowing mostly due to the cleft palate. CN XI (Accessory Nerve): it was difficult to assess CN XII ( Hypoglossal Nerve): Tongue movement is slightly abnormal also mostly due to the cleft palate and the patient is an obvious mouth breather; no atrophy or fasciculations observed. 30

31. Physical Exam: Neurological Motor System: Generalized Tone: The patient exhibits hypotonic features in ventral suspension, indicating weakened muscle tone. Vertical Suspension: When held in vertical suspension, the patient demonstrates tonicity with head lag. ○ Strength: Unable to sit without support, no weight bearing, unable to stand or walk. ○ Reflexes: Intact, normal deep tendon reflexes. ○ Primitive Reflexes: Presence of primitive reflexes such as Moro and grasp, which should have disappeared by this age. 31

32. Physical Exam: Neurological Lower Extremities: Adductor Muscles of the Thigh: The muscle tone in the adductor muscles is markedly hypertonic. Abductor Muscles of the Thigh: The muscle tone in the abductor muscles is within normal limits.  Reflexes are slightly diminished and inconsistent ○ Strength: Unable to sit without support, no weight bearing, unable to stand or walk. ○ Primitive Reflexes: Presence of primitive reflexes such as Moro and grasp, and are exaggerated for his age. 32

33. Physical Exam: Neurological, cont; Head Control: Significant head lag noted. ○ Fine Motor: Unable to hold objects, no pincer grasp. Sensory System: no signs of sensory loss. Movement: Myoclonic convulsions noted during exam, all 4 limbs are involved. 33

34. Physical Exam: Musculoskeletal Muscle Strength: Upper Extremities: Mild to moderate weakness observed, graded as 4/5 on the Medical Research Council (MRC) scale. Lower Extremities: Similar mild to moderate weakness observed, graded as 4/5 on the MRC scale. Inspection: swelling in both knees. Palpation: No tenderness or warmth over joints. Range of Motion: Full passive range of motion in all limbs, though active movement is limited. Limb Lengths: Symmetrical, no discrepancies. 34

35. Physical Exam: Back Back Examination: Inspection: No deformities, normal alignment. Palpation: No tenderness. Spine: No signs of spina bifida or meningocele, no sacral dimple or tuft of hair. 35

36. Physical Exam: Genitourinary External Genitalia: Normal male genitalia, no abnormalities noted. Hydration Indicators: Six wet diapers a day, consistent with adequate hydration 36

37. Physical Exam: Growth 15 MO male baby Length-for-Age: (75 cm) is in the 53rd percentile. Weight-for-Age:(8 kg) is in the 4th percentile. Head Circumference-for-Age:(42 cm) is in the 3rd percentile. 37

38. Differential 38 Infection (Pneumonia or Meningitis) Why This: Fever, cough with sputum, rapid breathing, irritability, and convulsions are indicative of infection. History of recurrent pneumonia supports this. Why Rule Out: Need to confirm with blood cultures, chest X-ray, and lumbar puncture for meningitis. Epilepsy Why This: Abnormal tonic convulsions and developmental delays. Why Rule Out: Rule out secondary causes of seizures, EEG can help in diagnosis. Metabolic Disorders (e.g., Hypothyroidism) Why This: Developmental delays, hypotonia, and growth issues. Why Rule Out: Blood tests for metabolic screening, thyroid function tests. Sepsis Why This: Fever, irritability, hypotonia, convulsions, history of infections. Why Rule Out: Blood cultures, complete blood count, and other sepsis markers

39. Differentials – Sundromes 39 1.Smith-Lemli-Opitz Syndrome Positives: Polydactyly. Cleft palate. Microcephaly. Hypotonia. Developmental delays. Reasons to Exclude: Absence of distinctive facial features such as a broad nasal bridge. Normal cholesterol levels (defective cholesterol synthesis is a hallmark of this syndrome). 2. Patau Syndrome (Trisomy 13) Positives: Polydactyly. Cleft palate. Microcephaly. Severe developmental delays. Congenital heart defects. Reasons to Exclude: Typically more severe malformations and multiple organ defects. Survival beyond infancy is rare. Confirmatory karyotyping for Trisomy 13 is negative. 3. DiGeorge Syndrome (22q11.2 Deletion Syndrome) Positives: Cleft palate. Recurrent infections Developmental delays and learning difficulties. Reasons to Exclude: Normal calcium levels and T-cell count. Genetic testing (FISH) for 22q11.2 deletion is negative. 4. DREAM-PL -> check the attached case report 5. CHARGE Syndrome – the patient dose not meet the definitive criteria but he meets the possible criteria

40. Some EBM differentials 40 https:// pubmed.ncbi.nlm.nih.gov /38348206/ https://scholar.google.com/scholar?hl=en& as_sdt =0%2C5&q=cleft+palate+%2C+polydactyly+microcephaly& oq =#d= gs_qabs &t=1723005321966&u=%23p% 3DH0qARNuXqGUJ Remember Clayton-smith j. Assessment of the dysmorphic infant 

41. Investigations 1. Laboratory Tests:○ Complete blood count (CBC) with differential. ○ Blood cultures.○ Metabolic panel.○ Thyroid function tests.○ C-reactive protein (CRP) and erythrocyte sedimentation rate (ESR).○ Lumbar puncture for cerebrospinal fluid (CSF) analysis if meningitis is suspected. 2. Imaging:○ Chest X-ray to evaluate for pneumonia.○ Brain MRI or CT scan to assess for structural anomalies. 3. Specialized Tests:○ Electroencephalogram (EEG) to assess for epilepsy.○ Genetic testing for suspected congenital syndromes renal US due to the ear tag 4. Brain MRI 41

42. Treatment plan 1. Infection Control:○ Empirical broad-spectrum antibiotics until culture results return.○ Antipyretics for fever management. 2. Seizure Management:○ Anticonvulsant medications as needed.○ Continuous monitoring of neurological status. 3. Nutritional Support:○ Consultation with a pediatric nutritionist.○ Evaluate and optimize caloric intake and feeding methods. 4. Developmental Support:○ Early intervention services including physical, occupational, and speech therapy. 5. Family Education and Support:○ Educate parents about the importance of regular follow-up.○ Provide resources for genetic counseling if a congenital syndrome is diagnosed 42

43. thank you