METABOLIC DISORDERS Part 2 Flashcards
a very rare disease described by Huntchinson in
1886
Progeria
Characterized by dwarfism and premature aging
PROGERIA
CLINICAL FEATURES:
• Infants appear normal at birth but symptoms will appear first few years
• Alopecia (No hair)
• Pigmented areas in the trunk
• Atrophic skin, prominent veins
• High pitch squeaky voice
• Beak like nose
• Hypoplastic mandible
• Exophthalmos (Bulging eyes)
• Muscular atrophy, joint deformities
Intelligence:
• Normal or above normal
PROGERIA
ORAL MANIFESTATIONS:
• Fast formation of irregular secondary dentin
• Delayed eruption of teeth
PROGERIA
PROGERIA TREATMENT
• None
• No patient will live beyond the age of 27 years old
Is also called “protein deficiency” which may occur in simple starvation
MARASMUS
is common in prolonged febrile illness, in stress, hyperthyroidism and other conditions with disturbance in digestion and usage of protein
MARASMUS
CLINICAL FINDINGS
• Loss of weight
• Loss of subcutaneous fat
• Wasting of muscles
• Pigment changes in skin
• Hair loss
• Hypotension
• Weakness
• Edema
• Anemia
MARASMUS
• A combined protein energy deficiency in children
• A form of starvation
• Usually seen in Africa
KWASHIORKOR
• Bright red tongue
• Loss of tongue
papillae
• Bilateral angular
cheilosis
• Fissuring of lips
• Xerostomia
• Dirty mouth but
carries free, easily
traumatized, epithelium easily detached from underlying tissues resulting to a raw and bleeding surface
KWASHIORKOR
What is lacking in nutrition?
• Milk
• Meat
• Poultry
• Fish eggs
KWASHIORKOR
DENTAL SYMPTOMS:
• Decreased jaw growth
• Delayed eruption
• Enamel easily soluble to acids
o If enamel is easily soluble, the tooth is prone to caries
• Increased dental caries
• Gingiva and periodontal membranes are degenerating
KWASHIORKOR
Also called:
o Mucopolysaccharidosis I o MPSIH
o Gargoylism
HURLER SYNDROME
CLINICAL FEATURES
• Large head
• Prominent forehead
• Broad saddle nose
• Wide nostrils
• Puffy eyelids
• Bushy eyebrows
• Thick lips
• Large tongue
• Open mouth
• Nasal congestion with noisy breathing
HURLER SYNDROME
ORAL MANIFESTATIONS
• Shortening and broadening of
mandible
• Diastemas
• Bone destruction
• Microdontia,
abnormal shapes
• Delayed eruption
• Gingival hyperplasia
• Enlarged tongue
HURLER SYNDROME
HISTOLOGIC FEATURES IN TISSUES AND ORGANS:
• Liver, spleen, cartilage, bone and heart show Gargoyle cells- these are also called Hurler cells
HURLER SYNDROME
These cells are large, with metachromatically staining cytoplasm that is granular or not, with crescent nuclei- the metachromatic granules are called
Reilly Bodies
HURLER SYNDROME
Reilly Bodies
o Crescent like the moon
o Cytoplasm is granular
o Metachromatically is different colors staining the
cytoplasm
HURLER SYNDROME
HEREDITARY FRUCTOSE INTOLERANCE
• Nausea and vomiting after taking sugar cane or fruit
• Hereditary from genes
• Patient can’t take sugar from fruits
HURLER SYNDROME
LIPID PROTEINOSIS
HURLER SYNDROME
NON-LIPID RETICULOENDOTHELIOSIS
Hand-Schuller-Christian Disease
Classic Triad ________
o Punched out lesions of the skull
o Exophthalmos
o Diabetes insipidus
Hand-Schuller-Christian Disease
Oral Manifestations
o Sore mouth
o Gingivitis
o Loose teeth
o Unpleasant
teeth
o Failure of tooth
sockets to heal
o Loss of alveolar
bone
Hand-Schuller-Christian Disease
The proliferative cell: Only affects bone
Eosinophilic Granuloma
• The proliferative cell: Affects skeletal and soft tissues but includes skin
• Diffuse involvement of skeletal system
• Rashes on scalp
Letterer-Siwe Disease
• Clinical Features:
o Occurs in infants before 3 years old
o Skin rash in trunks, scalp, extremities
o Low grade fever, malaise
Malaise: general weakness of the body
o Splenomegaly (Spleen)
o Hepatomegaly (Liver)
o Lymphadenopathy
Enlargement of lymph nodes not because of inflammation but may be due to tumor.
Letterer-Siwe Disease
Oral Manifestations
o Ulcer
o Gingival hyperplasia
o Bone destruction
o Loose teeth
Letterer-Siwe Disease
Histologic Features
o Very similar to
o Hand-Schuller- Christian disease,
many histiocytes
o With or without
eosinophils
Letterer-Siwe Disease
Laboratory Features o Anemia
o Leukopenia
o Thrombocytopenia • Treatment and Prognosis
o Extremely poor
Letterer-Siwe Disease
SUMMARY OF PROGNOSIS:
• Hand-Schuller-Christian Disease: ___
• Eosinophilic Granuloma:_____
• Letterer-Siwe Disease: _____
Good, Excellent, Extremely poor
Sphingomyelin metabolism disturbance
Gaucher’s Disease
A disturbance of lipid metabolism wherein keratin is
deposited in the reticuloendothelial system
Gaucher’s Disease
Cells commonly seen in spleen, lymph nodes, liver,
bone marrow are the lipid filled Gaucher’s cells
Gaucher’s Disease
cell:
o Round, pale, measuring 20 to 80 microns in
diameter, with small eccentric nucleus and a “wrinkled” or “crumpled silk” cytoplasm
Gaucher’s Disease
Treatment and Prognosis:
o Very poor prognosis
o Give the patient glucocerebroside
Gaucher’s Disease
Glucosyl ceramide metabolism disturbance
Niemann-pick Disease
There is abnormal storage of phospholipids
o Mostly sphingomyelin
Niemann-pick Disease
cell
o The pathognomonic cell
o They are foamy, lipid laden cells distributed
throughout the reticuloendothelial system.
They are positive for cholesterol – Weakly positive for alkaline
phosphatase
Niemann-pick Disease
Corneal clouding
• Hepatosplenomegaly, thus big
abdomen
• Short neck
• Spinal abnormalities
• Claw hand
• Dwarfism
• Mental retardation
• Thick lips
• Open mouth
• Bushy eyebrows
• Wide nostrils
hurler syndrome
the pathognomonic cell
niemann-pick cell
they are positive for cholesterol,
weakly positive for alkaline phosphote
niemann-pick cell
