Thyroid Disorders in Children - Clinical Case Study

Thyroid Disorders in

Children

Lorna F. Ramos-Abad,MD

Professor of Pediatrics

August 8,2020

Clinical History

•

 JF, 8 years 11 months old boy

 JF, 8 years 11 months old boy

•

Chief Complaint: Abdominal

Chief Complaint: Abdominal

enlargement

enlargement

History of Present Illness

Birth/Maternal History

•

Born term to a 22 y.o. G2P1(1-0-0-1)

•

NVSD

•

At home ,assisted by a midwife

•

(-) complications

•

Irregular prenatal check-ups at  a LHC

•

No significant illnesses during

pregnancy/no intake of teratogenic

drugs

Immediate Postnatal

 course

•

good cry , Good activity

•

Good suck

•

(-) jaundice

•

Had urine output on the first day

•

Breastfed after 2 hours from birth

History of Present Illness

•

5 months old: Noted delayed

development compared to sibling

•

No consult done

•

8 months old:

•

consult at PGH OPD

•

“abnormal:malaki ulo, dila, delayed

development

•

Unrecalled laboratory examination

requested

•

Lost to follow up

History of present illness

•

1 day PTA

•

(-) BM, flatus

•

(+) abdominal enlargement

•

(+) abdominal pain

•

(+) 1 episode of vomiting

•

(+) progression of abdominal

enlargement

•

Consult at local Hosptial

•

Referred to PGH

Review of Systems

Review of Systems

(please Answer)

(please Answer)

•

What questions will you ask if you

What questions will you ask if you

are considering congenital

are considering congenital

hypothyroidism?

hypothyroidism?

Questions to ask

Questions to ask



Birth Hx



Neonatal History

–

Feeding (frequency)

–

Jaundice

–

Bowel movement



Developmental History



Growth



Dentition

•

Past Medical History

Past Medical History

: unremarkable

: unremarkable

•

Family Medical History: 

Family Medical History: 

no heredo-

no heredo-

familial disorders

familial disorders

•

Personal/Social History:

Personal/Social History:

2

2

nd

nd

 of 5 children

 of 5 children

Mother is a 32 y/o housewife

Mother is a 32 y/o housewife

    Father is a 34 y/o driver

    Father is a 34 y/o driver

All siblings apparently healthy

All siblings apparently healthy

Does not go to school

Does not go to school

Developmental History



Social smile: 3mos



Rolled over: 1 yr 2 mos



Sat with support: 5 years



Crawled: 5 years



Sat alone: 6 years



Stood with support: 7 years



sat alone: 7 years



Cruised: 8 years



Babbles: 5-9 months



1

st

 word (“papa”): 5 years



At present:

–

Can stand/walk with support

–

Cooperates with dressing

–

Can undress himself

–

Can point to what he wants

–

Has a 2-word vocabulary

–

Attempts to feed himself

P

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•

Awake, irritable ,pale

•

Vital Signs: HR:  80/min. RR:30 bpm

•

Temp:  37.4 cm

•

Wt: 17 kg    Ht:  83 cm

•

 HC: 54 cm

•

 Abd Girth: 55.5 cm (umbilicus)

          63.5 cm (widest diameter)



Father’s height:

177.8 cm



Mother’s height:

161.29 cm



MPH:  163.05

cm



Weight-age: 4

years old



Height-age:  < 2

years old

F

M

•

SKIN: Pale skin ,  dry , fair turgor

•

HEAD: open anterior fontanelle (3x3 cm)

•

EYES: Pale palpebral conjunctiva

•

(-) TPC. (+) multiple dental carries,

•

(+) macroglossia

•

(+) low nasal bridge

•

(-) anterior neck mass

•

Chest and Lungs: Symmetrical chest

expansion,clear breath sounds, no

rales or wheezes,no retractions

•

Heart: no precordial bulge , heaves

             or thrills

   Apex beat: 4

th

 ICS Left MCL

   Distinct heart sounds

Regular rate and rhythm

No murmurs

•

Abdomen : Distended

(+) umbilical hernia

AG: 55.5 cm (umbilicus),

63.5 cm (widest

diameter)

•

Hypoactive bowel

sounds

•

(+) direct tenderness

all over

•

Soft

•

(-) rebound tenderness

•

ExtremitiesExtremities: Full and equal

pulses , no cyanosis , No edema, no

clubbing

•

CRT< 2 seconds

•

GENITALIA: Grossly male

•

Phallus: 4.5 cm  testicular volume : 2 ml

•

Tanner’s stage 1

•

NEURO Exam: Essentially normal

Initial Assessment

Ileus probably secondary to

Congenital Hypothyroidism

Points for discussion:

Points for discussion:

1)

Do you agree with the impression?

2)

What are the salient features that

point to possible congenital

hypothyroidism?

1. Explain the clinical manifestations

2.What are the possible causes of the

congenital hypothyroidism?

3.What work-up will you request?

4. What will you advise regarding

thyroid hormone therapy?

5. What is the prognosis?

6. Can you prevent  mental retardation

in cases of congenital

hypothyroidism?

Salient Features



8 years 11 month old male



Global developmental delay



With an 8 year history of constipation



PE:

–

Pallor

–

Patent anterior fontanelle

–

Macroglossia

–

Low nasal bridge

–

Abdominal distention

–

Umbilical hernia

–

Hypoactive bowel sounds

–

Direct tenderness

1. Explain the clinical manifestations

2.What are the possible causes of the

congenital hypothyroidism?

3.What work-up will you request?

4. What will you advise regarding

thyroid hormone therapy?

5. What is the prognosis?

6. Can you prevent  mental retardation

in cases of congenital

hypothyroidism?

 Clinical Data

 Clinical Data

o

K.R. ,5 year old female

o

Chief complaint: anterior neck mass

o

History of Present Illness:

o

1 month PTA : gradually enlarging anterior

neck mass ,bulging of both eyes

o

tremors of both hand

o

increase bowel movement to 2-3 x/ day

o

palpitations and dyspnea

Clinical Data

Clinical Data

o

Consulted  private MD :

o

Impression : Goiter

o

Seen at PGH-OPD:

o

soft, diffuse anterior neck mass  measuring 4 x

3.5 x 0.5 cm

o

tachycardic at 140/min

o

Work –up requested

Review of Systems

(-) weight gain/loss

(-) fever

(-) rashes

(-) pigmentation

(-) loss of consciousness

(-) seizure

(-) headache

(-) vomiting

(-) sore throat 

         (-) aural discharge

(-) cyanosis

(-) fainting spells

(-) jaundice

(-) constipation

(-) bleeding

(-) urinary changes

o

Past Medical Hx:

o

Family Medical Hx:

o

Birth/Maternal History:

o

Nutritional Hx:

o

Immunization Hx:

o

Developmental Hx:

o

Personal/Social Hx

Non-contributory

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Awake, irritable, in respiratory distress

•

B

P

:

1

0

0

/

7

0

C

R

:

1

7

0

/

m

i

n

•

RR:  40/min     Temp: 39.3 ºC

•

Wt 12.25 kgs 

Ht:  95 cms

•

MPH 163 cm  (Mother’s ht 155 cm

•

   Father’s ht 172 cm)

•

Warm moist skin, no active dermatoses



Height:

Height:

95cm

95cm



Mother:155

Mother:155



Father: 172

Father: 172



MPH

MPH

155+172

155+172

         2

         2

    - 6.5

    - 6.5

(Ans:157)

(Ans:157)

Mother

Father

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CVS: adynamic precordium, AB at 4

CVS: adynamic precordium, AB at 4

th

th

 L ICS

 L ICS

MCL, distinct HS, t

MCL, distinct HS, t

achycardic

achycardic

, normal

, normal

rhythm, no murmurs

rhythm, no murmurs

o

globular abdomen, normoactive bowel

globular abdomen, normoactive bowel

sounds, soft, non-tender, no masses, no

sounds, soft, non-tender, no masses, no

organomegaly

organomegaly

o

grossly female genitalia

grossly female genitalia

o

no edema, no cyanosis, full and equal

no edema, no cyanosis, full and equal

pulses

pulses

Neurological Examination

Neurological Examination

o

Awake, alert

o

Pupils 2-3 mm equally briskly reactive to

light

o

Fundoscopy: (+) ROR, OU; clear media,

distinct disc border

o

Full EOM’s;  Brisk corneals

o

No facial asymmetry

o

Intact gross hearing

o

Good gag

Neurological Examination

Neurological Examination

o

Tongue midline

o

Motor: 5/5 on all extremities

o

Sensory: no deficits

o

DTRs ++ on all

o

No babinski, no clonus

o

No neck rigidity

o

No nystagmus

Answer the ff:

Answer the ff:

1.

What is the first step in evaluating children

who present with anterior neck mass?

2.

What important anatomical distinction should

you do?

3.

What laboratory tests will you request?

4.

When do you do biopsy?

Answer the ff:

Answer the ff:

5) What medication will you give? Side-effects of

treatment ?

6) What is the role of medical, surgical and

radioactive therapy?

7) Will her condition affect future pregnancy?

Case Scenario (DKA)

•

J.F. ,7 y/o , Female, Filipino ,Iglesia ni

J.F. ,7 y/o , Female, Filipino ,Iglesia ni

Cristo  from Marikina City

Cristo  from Marikina City

CHIEF COMPLAINT

CHIEF COMPLAINT

: generalized body

: generalized body

weakness

weakness

HPI:

HPI:

•

4 weeks PTA: Fever ,Dysuria

4 weeks PTA: Fever ,Dysuria

•

No cough/colds

No cough/colds

•

Consult private MD  ; UA. -- UTI

Consult private MD  ; UA. -- UTI

•

Cotrimoxazole 5 mkd x 7 days

Cotrimoxazole 5 mkd x 7 days

•

Paracetamol 10 mkd prn x fever

Paracetamol 10 mkd prn x fever

•

2 weeks PTA: Polyuria, Nocturia,

Polydipsia

•

1 week PTA: 

↓

appetite  

↓

activity

                Weight loss

•

FFup same MD

•

CBC and SE: normal

•

UA: UTI - Cotrimoxazole 5mkd x 7

days

3 days PTA: 

No improvement ,Occasional DOB ,

No fever/cough/colds

Consult diff MD: ATP

Cotrimoxazole shifted to Clarithromycin 15mkd

Day of admission: 

DOB ,Weakness

No vomiting. No abd pain

Secondary hospital, Work-ups normal

RBS: 23.8mg/dl

UA: ph5, glucosuria 3+

IVF hydration

P

H

Y

S

I

C

A

L

E

X

A

M

I

N

A

T

I

O

N

Awake, weak-looking, drowsy

Awake, weak-looking, drowsy

, in cardiorespiratory

, in cardiorespiratory

distress

distress

BP 70/40mmHg     CR 110/min    RR 30/m

BP 70/40mmHg     CR 110/min    RR 30/m

Temp 36.8C

Temp 36.8C

Wt 16 kg (z<-2)          Ht 112cm (z<-1)

Wt 16 kg (z<-2)          Ht 112cm (z<-1)

BMI

BMI

13 (z<-1)

13 (z<-1)

Warm dry skin

Warm dry skin

, no active dermatoses

, no active dermatoses

Pink palpebral conjunctiva, anicteric sclera, 

Pink palpebral conjunctiva, anicteric sclera, 

sunken

sunken

eyes

eyes

,

,

(+) alar flaring

(+) alar flaring

,, 

,, 

dry lips and buccal

dry lips and buccal

mucosa

mucosa

,

,

Supple neck, no cervical lymphadenopathy

Supple neck, no cervical lymphadenopathy

P

e

r

t

i

n

e

n

t

P

E

•

Symmetrical chest expansion, 

Symmetrical chest expansion, 

(+) mild subcostal

(+) mild subcostal

retractions, Kussmaul’s breathing

retractions, Kussmaul’s breathing

,

,

, 

, 

clear breath

clear breath

sounds

sounds

, no crackles, wheezes nor rhonchi

, no crackles, wheezes nor rhonchi

•

Adynamic precordium, apex beat at 5th LICS

Adynamic precordium, apex beat at 5th LICS

MCL, 

MCL, 

tachycardic, regular rhythm,

tachycardic, regular rhythm,

 no murmur, no

 no murmur, no

heaves, no lifts nor thrills

heaves, no lifts nor thrills

•

Flat abdomen, normoactive bowel sounds,

Flat abdomen, normoactive bowel sounds,

tympanitic on all quadrant, no tenderness, no

tympanitic on all quadrant, no tenderness, no

organomegaly

organomegaly

•

Grossly female genitalia, no vaginal discharge nor

Grossly female genitalia, no vaginal discharge nor

erythema

erythema

•

Fair pulses, warm extremities, 

Fair pulses, warm extremities, 

no edema, no

no edema, no

cyanosis, 

cyanosis, 

CRT 3 sec

CRT 3 sec

N

E

U

R

O

L

O

G

I

C

A

L

E

X

A

M

I

N

A

T

I

O

N

Drowsy, follows command

Drowsy, follows command

Cranial Nerves intact

Cranial Nerves intact

Cerebellar: nystagmus

Cerebellar: nystagmus

No sensory deficits

No sensory deficits

Motor: Normal muscle tone, bulk, strength,

Motor: Normal muscle tone, bulk, strength,

can move all extremities equally and

can move all extremities equally and

symmetrically

symmetrically

DTR: ++ on all extremities

DTR: ++ on all extremities

No pathologic reflexes, No meningeal signs

No pathologic reflexes, No meningeal signs

Please answer the following Questions

Please answer the following Questions

1)

Explain the signs and symptoms of our

Explain the signs and symptoms of our

patient

patient

2)

Compute total  serum osmolality,

Compute total  serum osmolality,

effective osmolality and anion gap

effective osmolality and anion gap

3)

What is the true Na level of the

What is the true Na level of the

patient?

patient?

4)

Compute fluid requirement of the

Compute fluid requirement of the

patient; fluid of choice?

patient; fluid of choice?

Clinical Manifestations

Clinical Manifestations



Dehydration

Dehydration



Warm dry skin

Warm dry skin



sunken eyes

sunken eyes



dry lips and buccal

dry lips and buccal

mucosa

mucosa



Rapid, deep,

Rapid, deep,

sighing (Kussmaul

sighing (Kussmaul

respiration)

respiration)



(+) alar flaring

(+) alar flaring



Nausea,

vomiting



abdominal pain

•

Progressive

obtundation and

loss of

consciousness

Questions:

Questions:

1)

Explain the signs and symptoms

Explain the signs and symptoms

of our patient

of our patient

2)

Compute total  serum

Compute total  serum

osmolality, effective osmolality

osmolality, effective osmolality

and anion gap

and anion gap

3)

What is the true Na level of the

What is the true Na level of the

patient?

patient?

4)

Compute fluid requirement of

Compute fluid requirement of

the  patient; fluid of choice?

the  patient; fluid of choice?

Total serum Osm:

2(Serum Na) +

RBS + BUN

Effective serum

Osm:2(Se Na + K)

+ Glucose

Anion gap: Na –

(Cl + HCO3)



2 (124) +28.8)

+ 5.3 = 282.1



2(124+ 4.8) +

28.8= 286.4



124 – (95 + 3)=

         26

Questions:

Questions:

1)

Explain the signs and symptoms of our patient

Explain the signs and symptoms of our patient

2)

Compute total  serum osmolality, effective

Compute total  serum osmolality, effective

osmolality and anion gap

osmolality and anion gap

3)

What is the true Na level of

What is the true Na level of

the patient?

the patient?

4)

Compute fluid requirement of the  patient-

Compute fluid requirement of the  patient-

type of fluid

type of fluid

5)

What is the corrected K level of the

What is the corrected K level of the

patient?

patient?



Serum Na : 124

Serum Na : 124



RBS:

RBS:

28.8 mmol/L (518.4 mgs/dl)

28.8 mmol/L (518.4 mgs/dl)

124 + (1.6 X 4)= 124 + 6.4=130.4

Decrease serum Na by 1.6 for

every 100 mgs/dl sugar above 100

Questions:

Questions:

1)

Explain the signs and symptoms of our

Explain the signs and symptoms of our

patient

patient

2)

Compute total  serum osmolality, effective

Compute total  serum osmolality, effective

osmolality and anion gap

osmolality and anion gap

3)

What is the true Na level of the patient?

What is the true Na level of the patient?

4) Compute fluid requirement of

4) Compute fluid requirement of

the  patient; fluid of choice?

the  patient; fluid of choice?



Body

weight:

–

16 kgs

–

Assume

moderate



Degree of dehydration

 60ml/kg – 960ml

Maintenance:

1-10 kg:4 ml/kl/hr

11-20 kg: 2ml/kg/hr

62 cc/hr x48=2976

+ 960

3930/48

81.8 or 82 cc/hr



16 kgs



.05 u/kg/hr=0.8u/hr



0.1 unit/kg/hr= 1.6 u/hour



Insulin drip:50 u in 500 cc Plain NSS

Will you give Bicarbonate? If so, how much

Will you give Bicarbonate? If so, how much

and how will you administer the HCO3?

and how will you administer the HCO3?



VBG



pH6.89 pCO2 12 pO2 33 HCO3

3.0

You are now on the 4

You are now on the 4

th

th

 hour from initiation of

 hour from initiation of

Fluid and insulin drip. CBG is 270 mgs/dl.

Fluid and insulin drip. CBG is 270 mgs/dl.

What is your next step?

What is your next step?

Until when will we give the Insulin drip?

Until when will we give the Insulin drip?

How will you shift to the subcutaneous

How will you shift to the subcutaneous

route?

route?