METABOLIC DISORDERS Part 2 Flashcards by Love Dog

a very rare disease described by Huntchinson in
1886

Progeria

How well did you know this?

Not at all

Perfectly

Characterized by dwarfism and premature aging

PROGERIA

How well did you know this?

Not at all

Perfectly

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

How well did you know this?

Not at all

Perfectly

ORAL MANIFESTATIONS:
• Fast formation of irregular secondary dentin
• Delayed eruption of teeth

PROGERIA

How well did you know this?

Not at all

Perfectly

PROGERIA TREATMENT

• None
• No patient will live beyond the age of 27 years old

How well did you know this?

Not at all

Perfectly

Is also called “protein deficiency” which may occur in simple starvation

MARASMUS

How well did you know this?

Not at all

Perfectly

is common in prolonged febrile illness, in stress, hyperthyroidism and other conditions with disturbance in digestion and usage of protein

MARASMUS

How well did you know this?

Not at all

Perfectly

CLINICAL FINDINGS
• Loss of weight
• Loss of subcutaneous fat
• Wasting of muscles
• Pigment changes in skin
• Hair loss
• Hypotension
• Weakness
• Edema
• Anemia

MARASMUS

How well did you know this?

Not at all

Perfectly

• A combined protein energy deficiency in children
• A form of starvation
• Usually seen in Africa

KWASHIORKOR

How well did you know this?

Not at all

Perfectly

• 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

How well did you know this?

Not at all

Perfectly

What is lacking in nutrition?
• Milk
• Meat
• Poultry
• Fish eggs

KWASHIORKOR

How well did you know this?

Not at all

Perfectly

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

How well did you know this?

Not at all

Perfectly

Also called:
o Mucopolysaccharidosis I o MPSIH
o Gargoylism

HURLER SYNDROME

How well did you know this?

Not at all

Perfectly

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

How well did you know this?

Not at all

Perfectly

ORAL MANIFESTATIONS
• Shortening and broadening of
mandible
• Diastemas
• Bone destruction
• Microdontia,
abnormal shapes
• Delayed eruption
• Gingival hyperplasia
• Enlarged tongue

HURLER SYNDROME

How well did you know this?

Not at all

Perfectly

HISTOLOGIC FEATURES IN TISSUES AND ORGANS:
• Liver, spleen, cartilage, bone and heart show Gargoyle cells- these are also called Hurler cells

HURLER SYNDROME

How well did you know this?

Not at all

Perfectly

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