Q: Facial angiofibroma

Patient has facial angiofibroma, ash-leaf spots of skin depigmentation, hx of seizures, and mental retardation.

What condition does this patient have?

What neoplasms is this patient at risk of developing?

Q: Encapsulated bacteria

Encapsulated bacteria

Mnemonic:
Some Killers Have Pretty Nice Capsules

Poorly Gram Stained

What organisms do not take gram stain?

Cranial Nerves

Sensitive:  I, II, VIII
Motor: III, IV, VI, XI, XII
Mixed: V, VII, IX, X
Corticobulbar: V, VII, X, XI, XII

• All CN nuclei receive double innervation (from both sides of cortex) → a lesion of tracts innervating CN nuclei won't result in any physical manifestation except CN VII (Nucleus has Upper & lower divisions) & some individuals CN XII (mainly contralateral bulbar innervatoin)

Aminoaciduria

Aminoaciduria
FANCONI SYNDROME	HARTNUP DISEASE
Generalized aminoaciduria Including: ARGININE, PROLINE, HYDROXYPROLINE	Only neutral AA in urine NO: Arginine, Proline, Hydroxyproline
	Alanine, Serine, Threonine, Tyrosine, Tryptophan, Histidine, Valine, Leucine, Isoleucine, Phenylalanine
Proximal Renal Tubular: ·         Acidosis (loss of bicarbonate in Urine) ·         Aminoaciduria ·         Phosphaturia ·         Glucosuria	·         Aminoaciduria ·         Renal & Intestinal Tryptophan absorption defect ·         Pelagra like + ATAXIA + Photosensibilidad               (Dermatitis, Diarrhea, Dementia)

Q: Cystic Tumor

Cystic Tumor in the Cerebellum of a child:

Most likely:

Primary Billiary Cirrhosis

Primary biliar Cirrhosis

Question

Triad: Confusion, Ataxia Ophthalmoplegia

Seen in:

Enzyme deficiencies

DISEASE Phenylketonuria Alkaptonuria Maple Syrup Urine Disease Homocysteinuria

ENZYME DEFICIENT Phenylalanine Hydroxylase (Cofactor: Tetrahydrobiopterin) Homogentisate Oxidase Branched -Chain Ketoacid DHase (=α-Ketoacid DHase)(TLCFN) Cystathionine Synthase (B6) Homocysteine Methyl Trasferase Methyl THF

Tx/SUPLEMENT Tyrosine Thiamine Cisteine

AVOID Phenylalanine, Aspartate Phenylalanine, Tyrosine Leucine Valine Isoleucine

Neurotransmitter changes

Anxiety:	↑NE,  ↓GABA,  ↓Serotonin (5-HT)
Depression:	↓NE,  ↓Serotonin (5-HT), ↓Dopamine
Alzheimer's dementia:	↓ Ach
Huntington's disease:	↓GABA, ↓Ach
Schizophrenia:	↑Dopamine.
Parkinson's disease:	↓Dopamine,  ↑Ach, ↑Serotonin (5-HT)

Immunodeficiencies