Transcript CPC - Healthcare Professionals

CPC
Madhurima Gupta, MD
John F Pohl, MD
29th Sep 2004
1
A 5-year old male with
intermittent vomiting,
abdominal pain and CNS
changes seen on head MRI…
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CC
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Intermittent vomiting for 2 years
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HOPI
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Vomiting
 Non-bloody, non-bilious
 Progresses to multiple emesis episodes leading to
dehydration
 Associated with abdominal pain (diffuse in nature)
 Recurrent pattern
≥ 12 hours of sleep after vomiting episodes
Two of these episodes led to hospitalization at an
outside institution in the past two years
No associated diarrhea, constipation, hematochezia,
melena, dysphagia, fever, headache, dysuria, weight
loss or rashes.
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PMHx
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Term, vaginal delivery without
complications.
Pneumonia X 2
Chronic otitis media and allergic
rhinitis
Previous Giardia infection
2 previous hospital admissions for
dehydration
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History
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Past surgical history
 Bilateral tympanostomy tube
placement & Adenoidectomy
Medications: None
Drug Allergies: None
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Family History
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7-year old brother with a history of
insulin-dependent diabetes
mellitus, constipation, H/O Giardia
infection and “wheat allergy”
Mother has irritable bowel
syndrome
Father has “stomach problems”
Paternal grandmother has “wheat
allergy”
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Social History
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Attends kindergarten
No significant psychosocial
stressors
No recent travel
No tobacco exposure.
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Physical Exam
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VS: T 36o C, Pulse 97, R 12, BP 96/51, Wt.
19.5 kg(75%), Ht. 109 cm(50%)
Gen: Alert, talkative, no distress noted.
HEENT: Sclerae non-icteric. Nares patent
and clear. Oropharynx clear. Tympanic
membranes normal. Neck has normal ROM.
Lymph nodes: No adenopathy noted.
Heart: NSR without appreciable murmur
Lungs: Clear
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Physical Exam: Cont…
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Abdomen: Soft. Bowel sounds normal.
No HSM. No palpable masses. No
tenderness.
Genitalia: Tanner I male, circumcised,
testes descended bilaterally.
Rectal: Normal
Skin: No rashes.
Neuro: No focal neurological deficits
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Labs
T. Prot
Alb
N
6.9 (6-8)
4.7 (4-6)
ALT
20 (0-35)
AST
35 (0-35)
T. Bili
0.8 (0.1-1.0)
D. Bili
0.3 (0-0.4)
Alk. P
255 (to-345)
Amylase
39
N
(<120)
Lipase
98
(0-160)
Ammonia
11
(29-70)
Lactic acid
1.5
(0.2-0.8)
Pyruvate
0.08 (0.7-0.12)
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Labs: Cont…
12.5 Hbg
6.9
WBC
341,000
Platelets
36.8 Hct
G78 L13 M8
137
4.6
Na
K
98
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Cl
CO2
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BUN
0.3
65 BS
Cr
AG = 23
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Labs: Cont…
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Serum amino acid screen: Normal
Urine organic acid screen: Increased 3hydroxybutyric & acetoacetic acid
UA
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Sp. gravity 1.032
pH 5.5
4+ ketones
Negative blood, glucose, protein, nitrite,
leukocyte esterase, bilirubin
RBCs, WBCs, Bacteria: 0
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Radiographic studies
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Upper GI barium series: Normal
Head MRI: Scattered areas of
increased signal intensity particularly
noted in the subcortical white matter
regions. These areas are read as
possibly post-ischemic, postinflammatory or demyelinating lesions.
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MRI of the Brain
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Pertinent points
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Recurrent vomiting episodes associated with abdominal
pain
Family H/O “wheat allergy” in older brother & paternal
grandmother
Labs:
 Metabolic acidosis
 Increased 3-hydroxybutyric and acetoacetic acid on
urinary organic acid screen
 4+ ketones on UA
Head MRI: Scattered areas of increased signal intensity
particularly in the subcortical white matter regions.
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Differential diagnosis
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Lead poisoning
Reye syndrome
Inborn errors of metabolism
Brain tumor
GI obstruction
Celiac Disease
Cyclic vomiting syndrome-Secondary
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Lead poisoning
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Most common metal poisoning
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Due to widespread presence of lead containing
products in industrial and residential settings
Interferes with biosynthesis of heme
Disturbs calcium metabolism
BLL
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Gold standard for determining health effects (ideal
value=0)
CDC & AAP consider up to 10μg/dL acceptable
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Clinical presentation
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Acute intoxication (BLL>80 μg/dL)
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Crampy abdominal pain with or without
neurologic or constitutional complaints
ranging from headache and malaise to
overt encephalopathy
Chronic lead toxicity
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More common
Characterized by multisystemic signs and
symptoms
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Clinical presentation: Cont…
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Gastrointestinal symptoms
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Anorexia, abdominal pain, vomiting and
constipation
Occurring and recurring over a period of weeks.
Associated CNS and behavioral symptoms
Lead encephalopathy has been associated
with softening and flattening of convolutions
in the brain
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Differential diagnosis
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× Lead poisoning
Reye syndrome
Inborn error of metabolism
Brain tumor
GI obstruction
Celiac Disease
Cyclic vomiting syndrome-Secondary
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Reye Syndrome
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Definition: Acute, noninflammatory
encephalopathy with altered levels of
consciousness and liver dysfunction
May be a multiorgan disease due to diffuse
mitochondrial injury of unknown origin
No toxic factor identified yet
Studies suggest etiologic link b/w the use of
aspirin & viral infections (varicella & Influenza
B)
Avoid the use of aspirin as an antipyretic in
pediatric patients with influenza or varicella.
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Clinical presentation
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Classic case: Stereotypic, biphasic course
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Prodromal febrile illness (URI or chickenpox)
Followed by an interval in which the child has
seemingly recovered
Abrupt onset of protracted vomiting (usually
within 5–7 days after the onset of the viral illness)
Delirium, combative behavior and stupor may
follow within a few hours after onset of vomiting
Neurologic symptoms may rapidly progress to
seizures, coma and death
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Diagnosis
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AST & ALT: Can be be up to 30 times
normal values
Ammonia: Thrice the normal range or
more
Increased Lactic acid & organic acids
CT or MRI: “Normal brain” or “diffuse
cerebral edema with ventricular
compression”
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Differential diagnosis
× Lead poisoning
 × Reye syndrome
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Inborn error of metabolism
Brain tumor
GI obstruction
Celiac Disease
Cyclic vomiting syndrome-Secondary
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Inborn Errors of Metabolism
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IEMs associated with metabolic acidosis
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Organic acidemias (methylmalonic,
propionic, isovaleric acidemia)
Defects in pyruvate metabolism
Defects in the respiratory chain: Primary
lactic acidosis
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IEMs: Cont…
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Symptoms of late onset IEMs (partial defect)
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Vomiting, respiratory distress and changes in
mental status
Symptoms usually brought on by process causing
increased catabolism like intercurrent illness
Initial tests to r/o IEMs
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CBC, Chem-7, AST/ALT, T. & D. Bilirubin, plasma
ammonia/lactate/pyruvate/amino acids and urine
dipstick/organic acids
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Differential diagnosis
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× Lead poisoning
× Reye syndrome
× Inborn error of metabolism
Brain tumor
GI obstruction
Celiac Disease
Cyclic vomiting syndrome-Secondary
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Brain tumor
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Primary tumors of brain
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Second most common cancer in children (after leukemia)
Most common solid tumor
Two thirds of all intracranial tumors in children b/w
ages of 2 and 12 yr are infratentorial
Most common infratentorial tumors in children:
Cerebellar astrocytoma, medulloblastoma, brain stem
gliomas, ependymoma
Most common supratentorial tumors:
Craniopharyngioma, optic nerve gliomas, choroid
plexus papilloma
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Clinical presentation
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Clinical Presentation varies
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Two distinct patterns of presentation
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Infratentorial: Symptoms and signs of increased intracranial
pressure (ICP)
Supratentorial: Focal neurologic signs & seizures
Alterations in personality are often the first symptom
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Depending on the location, type, rate of growth of the tumor
and the age of the child.
Child may become lethargic, irritable, hyperactive, forgetful
or may perform poorly academically
MRI is the neuroimaging standard for primary brain
tumors
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Differential diagnosis
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× Lead poisoning
× Reye syndrome
× Inborn error of metabolism
× Brain tumor
GI obstruction
Celiac Disease
Cyclic vomiting syndrome-Secondary
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GI obstruction
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Most common cause of nonbilious vomiting is
gastric outlet obstruction
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Other symptoms
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Caused by pyloric atresia, antral webs, gastric
duplications and gastric volvulus
Nausea, abdominal distension and abdominal pain
Abdominal plain radiographs: Dilated stomach
Upper gastrointestinal contrast series is
usually diagnostic
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Differential diagnosis
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× Lead poisoning
× Reye syndrome
× Inborn error of metabolism
× Brain tumor
× GI obstruction
Celiac Disease
Cyclic vomiting syndrome-Secondary
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Celiac disease
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Autoimmune inflammatory disease of the
small intestine that is precipitated by the
ingestion of gluten (component of wheat
protein) in genetically susceptible persons
Intra familial occurrences happen frequently
Disorder develops after dietary exposure to
protein gluten (found in wheat, rye and
barley)
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Celiac Disease: Cont…
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Immunologic response involves activation of
inflammatory response by CD4+ glutensensitive T cells resulting in villus atrophy,
crypt hyperplasia and damage to the surface
epithelium in the small bowel
The injury is greatest in the proximal small
bowel which explains the variable degree of
malabsorption
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Clinical presentation
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May present at any age after
introduction of gluten to diet
Nonintestinal features are equally as
common as GI symptoms
Commonly manifests as “silent”
celiac disease (i.e. minimal or no
symptoms)
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Clinical Presentation: Cont…
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Older children may present with
abdominal pain, vomiting, anorexia,
diarrhea, arthritis/arthralgia, anemia
Extraintestinal symptoms & signs result
from nutrient malabsorption & may
involve virtually all organ systems
Extraintestinal manifestations may
include demyelinating CNS lesions
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Diagnosis
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Serologic testing should be considered in
patients with increased genetic risk and in
patients who have chronic diarrhea, recurrent
vomiting, unexplained anemia, chronic fatigue
or unexplained weight loss.
Current serum immunologic markers have
increased sensitivity and specificity for
diagnosis: IgA endomysial, tissue
transglutaminase & anti-gliadin antibodies
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Diagnosis: Cont…
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Clinical symptoms and serologic
markers may suggest diagnosis but
histologic confirmation is mandatory
Characteristic include villus atrophy,
crypt hyperplasia and infiltration of the
lamina propria with chronic
inflammatory cells
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Differential diagnosis
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× Lead poisoning
× Reye syndrome
× Inborn error of metabolism
× Brain tumor
× GI obstruction
Celiac Disease
Cyclic vomiting syndrome-Secondary
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Cyclic vomiting syndrome
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Syndrome with numerous episodes of vomiting
(about nine episodes/mo) interspersed with well
intervals
Onset - 3 to 5 yr of age
Episodes last 2–3 days, with four or more emesis
episodes per hour
Idiopathic cyclic vomiting may be a migraine
equivalent (abdominal migraine)
Radiographic studies of GI tract & neurologic
evaluation (CT or MRI) rule out most organic lesions
that may produce recurrent vomiting
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Differential diagnosis
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× Lead poisoning
× Reye syndrome
× Inborn error of metabolism
× Brain tumor
× GI obstruction
Celiac Disease
Cyclic vomiting syndrome-Secondary
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Final Diagnosis:
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Celiac Disease
Cyclic vomiting syndrome - secondary
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Further testing
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IgA endomysial antibodies
IgA tissue transglutaminase antibodies
IgA anti-gliadin antibodies
Small intestinal endoscopic biopsy
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The End
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Proceed to post test
Download post test
Complete post test
Return post test to Dr. Sandra Oliver
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Post test question 1
1. Increased ketones in the urine
may occur in all the folllowing
except:
A. Renal Glycosuria
B. Starvation
C. Metabolic Alkalosis
D. Hyperthyroidism
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Post test question 2
2. Which incorrectly describes Lead
Poisoning
A. Stimulates heme and globin synthesis
B. Disturbs calcium metabolism
C. Results in abdominal discomfort
D. Causes irreversible mental retardation
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Post test question 3
1. IEMs are associated with which of the
following except
A.
B.
C.
D.
Hypoammonemia
Metabolic Acidosis
Hyperglycemia
Metabolic encephalopathy
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Post test question 4
4. Celiac disease is correctly described by
which of the following:
A. Autoimmune inflammatory disease of the
large intestine
B. Replacement of long villi and short crypts
with short or absent villi and hyperplastic
crypts.
C. Inappropriate B-cell response to gluten
D. Immunoglobulin (Ig)A antibodies are
present in perimysium
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