Tangier disease

Tangerines in the throat!


Aut recessive, rare

Deficiency of ABCA1 transporter needed to transport cholesterol out of cells

Low serum cholesterol, No cholesterol to pick up leading to low HDL

cholesterol accumulation in cells and tissues

Enlarged, yellow or orange tonsils, premature artherosclerosis, hepatosplenomegaly, corneal clouding

nursing-resource.com

Fanconi anemia

Autosomal recessive

Aplastic anemia


Pancytopenia

Hyperpigmentation

Short stature

microcephaly

hypogonadism

upper limb anomalies

radswiki.net

Cure is BM transplant

MEN 2b

MuMP

Mucosal neuroma
Medullary CA of thyroid
Phaeochromocytoma



Marfanoid habitus, GI symptoms

MEN 2a

PaMP


Parathyroid hyperplasia
Medullary CA of thyroid
Phaeochromocytoma

MEN1

Pi, Pa, Pa

Pituitary
Parathyroid
Pancreatic


(PiPaPa, PaMP and MuMP: MEN1, 2a and 2b)

Gaucher's disease

Gauchers has a 3G phone in his wrinkled paper bag!

Lyosomal storage disease
Deficiency of acid beta Glucosidase (Glucocerebrosidase)
hepatosplenomegaly
Ashkenazi Jews
Aut recessive
wrinkled paper appearance of macrophages
Erlenmeyer flask deformity of distal femur (aseptic necrosis) - seen in other conditions e.g SS Dx
Grey-brown pigmentation of forehead, hands and pretibial area

Tay-Sachs disease

Lysosomal storage disease
Deficiency of Hexosaminidase A (TAY)
Cherry-red spot on Macula
Aut recessive
Ashkenazi Jews
Onion skin appearance of lysosomes


mnemonic: Sac of onions!

Niemman-Picks Disease

Lysosomal storage dx
Deficiency of Sphingomyelinase
Cherry-red spot on Macula
Hepatosplenomegaly
Aut recessive
Common in Ashkenazi Jews
5month old infant experiences regression in developmental milestones.

No Man Picks his nose with his Sphingers without Regressing!