Review - Clinical - Presentations II

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V5.5

[Intro: 130 BPM. Fast acoustic guitar strumming and a lively fiddle riff build the energy before the kick drum drops.]

[Block 1: Upbeat country-pop rhythm starts. Vocals are energetic and bouncy.]

Phenylketonuria “Intellectual disability, musty body odor, hypopigmented skin, eczema eczema eczema eczema
(snare) NEXT

Alkaptonuria (Shout) presents Bluish-black black black black connective tissue, ear cartilage, sclerae; sclerae sclerae arthralgias; black urine, black
(snare) NEXT

Maple syrup urine disease “branched aa, neurologic decline, seizures”
*Cystinuria “stones”. Organic acidemias “Propionic or Methylmalonic” hypoglycemia SO ketoacidosis, hyperammonemia

[Block 2: Bassline drops in tight and fast. The singer accelerates effortlessly.]

Cori (or Forbes, type 3) disease “debranching enzyme” AND von Gierke “glucose-6-phosphatase” (more severe) (Shout) presents hypoglycemia, hepatomegaly.
Cardiomyopathy in Cori; hyperuricemia in Gierke. Neutropenia in type 1 b.
Anderson; 4, branching. hypotonia, hepatomegaly, cirrhosis
Pompe; 2, Lysosomal alpha-glucosidase. Cardiomegaly “hypertrophic”, hypotonia “floppy”, hepatomegaly
(snare) NEXT

McArdle “muscle glycogen phosphorylase” (Shout) presents exercise intolerance, myalgia, myoglobinuria
(snare) NEXT

[Block 3: Fiddle plays a fast solo in the background. Delivery is punchy and syncopated.]

Tay-Sachs “ganglioside accumulate; no hepatosplenomegaly”; AND Niemann-Pick “sphingomyelin accumulate”; hepatosplenomegaly; central retinal artery occlusion BOTH “Cherry-red spot"
(snare) NEXT

Gaucher “glucocerebrosidase (β-glucosidase) deficiency” (Shout) presents Hepatosplenomegaly, pancytopenia, osteoporosis, avascular necrosis of femoral head, bone crises
(snare) NEXT
*MPS1. “Hurler”. Iduronidase. “normal at birth, hepatosplenomegaly, coarse facies, corneal clouding, large tongue, skeletal dysplasia, cardiomyopathy, intellectual disability”
*MPS2 “Hunter”. Iduronate-2-sulfatase. “no corneal clouding and slower progression”

[Block 4: Full country-pop beat returns. Bright telecaster chords swell.]
*Fabry “episodic peripheral neuropathy, angiokeratomas, hypohidrosis, alpha-galactosidase.” Krabbe “CNS, PNS problems. Galactocerebrosidase”. Metachromatic Leukodystrophy “demyelination, dementia, arylsulfatase”

Familial hypercholesterolemia “high LDL” (Shout) presents tendon xanthoma, corneal arcus
(snare) NEXT

Bruton disease (Shout) presents Male, lymphoid hypoplasia, after the 6 months, recurrent infections “strep, fungal, viral, mycoplasma”, no mature B cells, decreased immunoglobulins, neutropenia. Live vaccines contraindicated
*CVID “hypogammaglobulinemia, recurrent sinopulmonary infections, lymphomas, equal sex distribution. normal B cells and lymphoid follicles”
(snare) NEXT

[Block 5: A sparkling acoustic arpeggio loops rapidly. The delivery is breathless.]
*SCID “Failure to thrive, chronic diarrhea, thrush Recurrent viral, bacterial, fungal, and protozoal infections. X-linked-IL-2R; AR-ADA”. Small thymuses, absent lymph nodes, tonsils.

Hyper-IgE syndrome (Job) neutrophil chemotaxis abnormality; STAT3 mutation. (Shout) presents staphylococcal abscesses, osteopenia, and Coarse facies, eczema
(snare) NEXT

Leukocyte adhesion deficiency 1 (Shout) presents Late separation (> 30 days) of umbilical cord, Neutrophilia, recurrent bacterial infections with no pus.
(snare) NEXT

[Outro: The beat shifts to a rapid, foot-stomping build-up to finish out the list.]

Chronic granulomatous disease “dihydrorhodamine test less green”

Myeloperoxidase deficiency. Mostly silent. disseminated candidiasis

Chédiak-Higashi “neuropathy, albinism, recurrent infections, giant granules”.

Wiskott-Aldrich “Thrombocytopenia, Eczema, infections. WAS mutation; defective antigen presentation”

Ataxia-telangiectasia. ATM “failure to detect DNA damage”. “ataxia, spider Angiomas, lymphopenia, lymphoma”

[Ending: A bright cymbal crash and a final staccato fiddle pluck. Total silence.]

3965/7500

[Intro: 130 BPM. Fast acoustic guitar strumming and a lively fiddle riff build the energy before the kick drum drops.] [Block 1: Upbeat country-pop rhythm starts. Vocals are energetic and bouncy.] Phenylketonuria “Intellectual disability, musty body odor, hypopigmented skin, eczema eczema eczema eczema (snare) NEXT Alkaptonuria (Shout) presents Bluish-black black black black connective tissue, ear cartilage, sclerae; sclerae sclerae arthralgias; black urine, black (snare) NEXT Maple syrup urine disease “branched aa, neurologic decline, seizures” *Cystinuria “stones”. Organic acidemias “Propionic or Methylmalonic” hypoglycemia SO ketoacidosis, hyperammonemia [Block 2: Bassline drops in tight and fast. The singer accelerates effortlessly.] Cori (or Forbes, type 3) disease “debranching enzyme” AND von Gierke “glucose-6-phosphatase” (more severe) (Shout) presents hypoglycemia, hepatomegaly. Cardiomyopathy in Cori; hyperuricemia in Gierke. Neutropenia in type 1 b. Anderson; 4, branching. hypotonia, hepatomegaly, cirrhosis Pompe; 2, Lysosomal alpha-glucosidase. Cardiomegaly “hypertrophic”, hypotonia “floppy”, hepatomegaly (snare) NEXT McArdle “muscle glycogen phosphorylase” (Shout) presents exercise intolerance, myalgia, myoglobinuria (snare) NEXT [Block 3: Fiddle plays a fast solo in the background. Delivery is punchy and syncopated.] Tay-Sachs “ganglioside accumulate; no hepatosplenomegaly”; AND Niemann-Pick “sphingomyelin accumulate”; hepatosplenomegaly; central retinal artery occlusion BOTH “Cherry-red spot" (snare) NEXT Gaucher “glucocerebrosidase (β-glucosidase) deficiency” (Shout) presents Hepatosplenomegaly, pancytopenia, osteoporosis, avascular necrosis of femoral head, bone crises (snare) NEXT *MPS1. “Hurler”. Iduronidase. “normal at birth, hepatosplenomegaly, coarse facies, corneal clouding, large tongue, skeletal dysplasia, cardiomyopathy, intellectual disability” *MPS2 “Hunter”. Iduronate-2-sulfatase. “no corneal clouding and slower progression” [Block 4: Full country-pop beat returns. Bright telecaster chords swell.] *Fabry “episodic peripheral neuropathy, angiokeratomas, hypohidrosis, alpha-galactosidase.” Krabbe “CNS, PNS problems. Galactocerebrosidase”. Metachromatic Leukodystrophy “demyelination, dementia, arylsulfatase” Familial hypercholesterolemia “high LDL” (Shout) presents tendon xanthoma, corneal arcus (snare) NEXT Bruton disease (Shout) presents Male, lymphoid hypoplasia, after the 6 months, recurrent infections “strep, fungal, viral, mycoplasma”, no mature B cells, decreased immunoglobulins, neutropenia. Live vaccines contraindicated *CVID “hypogammaglobulinemia, recurrent sinopulmonary infections, lymphomas, equal sex distribution. normal B cells and lymphoid follicles” (snare) NEXT [Block 5: A sparkling acoustic arpeggio loops rapidly. The delivery is breathless.] *SCID “Failure to thrive, chronic diarrhea, thrush Recurrent viral, bacterial, fungal, and protozoal infections. X-linked-IL-2R; AR-ADA”. Small thymuses, absent lymph nodes, tonsils. Hyper-IgE syndrome (Job) neutrophil chemotaxis abnormality; STAT3 mutation. (Shout) presents staphylococcal abscesses, osteopenia, and Coarse facies, eczema (snare) NEXT Leukocyte adhesion deficiency 1 (Shout) presents Late separation (> 30 days) of umbilical cord, Neutrophilia, recurrent bacterial infections with no pus. (snare) NEXT [Outro: The beat shifts to a rapid, foot-stomping build-up to finish out the list.] Chronic granulomatous disease “dihydrorhodamine test less green” Myeloperoxidase deficiency. Mostly silent. disseminated candidiasis Chédiak-Higashi “neuropathy, albinism, recurrent infections, giant granules”. Wiskott-Aldrich “Thrombocytopenia, Eczema, infections. WAS mutation; defective antigen presentation” Ataxia-telangiectasia. ATM “failure to detect DNA damage”. “ataxia, spider Angiomas, lymphopenia, lymphoma” [Ending: A bright cymbal crash and a final staccato fiddle pluck. Total silence.]

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