Rare Disorders

Beckwith Wiedemann Syndrome Macrosomia

Macroglossia
Hemihyperplasia
Omphalocele
Embryonal Tumor (Wilms / hepatoblastoma)
Hyperplasia of adrenal cortex
Nephromegaly, Nephrocalcinosis
Neonatal Hypoglycemia
Anterior linear ear lobe creases
Diamond Blackfan Syndrome Macrocytic/normocytic anemia
Decreased bone marrow progenitor cells
Craniofacial abnormalities
Cleft palate
Thumb or UL abnormalities
Cardiac Defects
Urogenital Defects
Rashes starting on hand and foot Kawasaki Disease
Rocky Mountain Spotted Fever
Secondary Syphilis
Hand foot mouth disease
Dandy-Walker syndrome (Pediatrics) Agenesis of cerebellar vermis leads to cystic
enlargement of 4th ventricle that fills the
enlarged posterior fossa. Associated with
noncommunicating hydrocephalus, spina bifida.
Chiari I malformation Ectopia of cerebellar tonsils. Congenital, usually
asymptomatic in childhood, manifests in
adulthood with headaches and cerebellar
symptoms. Associated with spinal cavitations (eg,
syringomyelia).
Chiari II malformation Herniation of low-lying cerebellar vermis and
tonsils (2 structures) through foramen magnum
with aqueductal stenosis hydrocephalus.
Usually associated with lumbosacral
meningomyelocele
(may present as paralysis/sensory loss at and
below the level of the lesion)
Bernard-Soulier syndrome (defect in platelet Bleeding disorder with GpIb deficiency
adhesion to von Willebrand factor)
Tumor of infancy Strawberry hemangioma (grows rapidly and
regresses spontaneously by childhood)
Gilbert syndrome Hereditary harmless jaundice
(benign congenital unconjugated
 hyperbilirubinemia)
Dubin-Johnson syndrome Congenital conjugated hyperbilirubinemia (black
liver)
Inability of hepatocytes to secrete conjugated
bilirubin into bile
Krukenberg tumor Bilateral ovarian metastases from gastric
carcinoma
Mucin-secreting signet ring cells
HLA-DR4 Disorders Diabetes mellitus type 1, rheumatoid arthritis,
Addison disease
HLA-DR3 Disorders Diabetes mellitus type 1, SLE, Graves disease,
Hashimoto thyroiditis (also associated with HLA-
DR5), Addison disease
Zollinger-Ellison syndrome Refractory peptic ulcers and high gastrin levels
Gastrinoma of duodenum or pancreas, associated
with MEN1
21-hydroxylase deficiency Congenital adrenal hyperplasia, hypotension
Cardiac 1° tumor (kids) Rhabdomyoma, often seen in tuberous sclerosis
Cardiac 1° tumor (adults) Metastasis, myxoma (90% in left atrium; “ball
valve”)
Hereditary haemorrhagic telangiectasia ♦Also known as Osler-Weber-Rendu
syndrome, hereditary haemorrhagic
telangiectasia (HHT) is an
autosomal dominant condition characterised by
(as the name suggests) multiple telangiectasia
over the
skin and mucous membranes. Twenty percent
of cases occur spontaneously without prior
family
history.
♦There are 4 main diagnostic criteria. If the
patient has 2 then they are said to have a
possible
diagnosis of HHT. If they meet 3 or more of
the criteria they are said to have a definite
diagnosis
of HHT:
epistaxis : spontaneous, recurrent nosebleeds
telangiectases: multiple at characteristic sites
(lips, oral cavity, fingers, nose)
visceral lesions: for example gastrointestinal
telangiectasia (with or without bleeding),
pulmonary arteriovenous malformations
(AVM), hepatic AVM, cerebral AVM, spinal
AVM
family history: a first-degree relative with
HHT.
Von Hippel Landau Syndrome Cerebellar Hemangioblastoma
Renal Adenocarcinoma
Carcinoid Syndrome Flushing, Diarrhea, valvular lesions (TR, PS)
Aschoff Bodies Pathognomonic for Rheumatic fever
Kallman Syndrome Hypogonadism
Colour blindness
Anosmia
Noonan Syndrome Male with Turner features
Peritonsillar Abscess Uvula deviated opposite side
Hypokalaemia with hypertension Cushing's syndrome
Conn's syndrome (primary hyperaldosteronism)
Liddle's syndrome
11-beta hydroxylase deficiency*
Renal artery stenosis

Hypokalaemia without hypertension Diuretics

GI loss (e.g. Diarrhoea, vomiting)
renal tubular acidosis (type 1 and 2**)
Bartter's syndrome
Gitelman syndrome
*21-hydroxylase deficiency, which accounts for
90% of congenital adrenal hyperplasia cases, is not
associated with hypertension
**type 4 renal tubular acidosis is associated with
hyperkalaemia

Ejection click Aortic stenosis

Opening snap Mitral stenosis
Heart murmur, congenital Mitral valve prolapse
Eisenmenger syndrome Late cyanotic shunt (uncorrected left to right becomes
right to left)
Caused by ASD, VSD, PDA; results in pulmonary
hypertension/polycythemia
Heart valve in bacterial endocarditis Mitral > aortic (rheumatic fever), tricuspid (IV drug
abuse)
Sites of atherosclerosis Abdominal aorta > coronary artery > popliteal artery >
carotid artery

Metastases to bone Prostate, breast > lung, thyroid, kidney

Metastases to brain Lung > breast > prostate > melanoma > GI
Metastases to liver Colon >> stomach > pancreas

Ethylene glycol/methanol intoxication Fomepizole (alcohol dehydrogenase inhibitor)

Neisseria meningitides Penicillin/ceftriaxone, rifampin (prophylaxis)
Haemophilus influenzae (B) Amoxicillin } clavulanate (mucosal infections),
ceftriaxone (meningitis), rifampin (prophylaxis)
Legionella pneumophila Macrolides (eg, azithromycin)
Pseudomonas aeruginosa Piperacillin/tazobactam, aminoglycosides, carbapenems
Rickettsia rickettsia Doxycycline, chloramphenicol
Candida albicans Topical azoles (vaginitis); nystatin, fluconazole,
caspofungin (oral/esophageal); fluconazole,
caspofungin, amphotericin B (systemic)
Cryptococcus neoformans Induction with amphotericin B and flucytosine,
maintenance with fluconazole (in AIDS patients)
Sporothrix schenckii Itraconazole, oral potassium iodide
Pneumocystis jirovecii TMP-SMX (prophylaxis and treatment in
immunosuppressed patients, CD4 < 200/mm3)
Toxoplasma gondii Sulfadiazine + pyrimethamine
Malaria Chloroquine, mefloquine, atovaquone/proguanil (for
blood schizont), primaquine (for liver hypnozoite)
Trichomonas vaginalis Metronidazole (patient and partner)
Influenza Oseltamivir, zanamivir
Neisseria gonorrhoeae Ceftriaxone (add doxycycline to cover likely concurrent
C trachomatis)
CMV Ganciclovir, foscarnet, cidofovir
Clostridium difficile Oral metronidazole; if refractory, oral vancomycin
Mycobacterium tuberculosis RIPE (rifampin, isoniazid, pyrazinamide, ethambutol)

Patent ductus arteriosus Close with indomethacin; keep open with PGE analogs
Buerger disease Smoking cessation
Granulomatosis with polyangiitis (Wegener) Cyclophosphamide, corticosteroids
Kawasaki disease IVIG, high-dose aspirin
Temporal arteritis High-dose steroids
Pheochromocytoma α-antagonists (eg, phenoxybenzamine)
Prolactinoma Cabergoline/bromocriptine (dopamine agonists)
Diabetes insipidus Desmopressin (central);
hydrochlorothiazide, indomethacin, amiloride
(nephrogenic)
SIADH Fluid restriction, IV hypertonic saline, conivaptan/
tolvaptan, demeclocycline
Carcinoid syndrome Octreotide
Crohn disease Corticosteroids, infliximab, azathioprine
Ulcerative colitis 5-ASA preparations (eg, mesalamine), 6-
mercaptopurine,
infliximab, colectomy
Chronic myelogenous leukemia Imatinib
Acute promyelocytic leukemia (M3) All-trans retinoic acid
Warfarin reversal Fresh frozen plasma (acute), vitamin K (non-acute)
Cyclophosphamide-induced hemorrhagic cystitis Mesna
HER2/neu ⊕ breast cancer Trastuzumab
Osteoporosis Calcium/vitamin D supplementation (prophylaxis);
bisphosphonates, PTH analogs, SERMs, calcitonin,
denosumab (treatment)
Chronic gout Xanthine oxidase inhibitors (eg, allopurinol, febuxostat);
pegloticase; probenecid
Acute gout attack NSAIDs, colchicine, glucocorticoids
Absence seizures Ethosuximide
Tonic-clonic seizures Levetiracetam, phenytoin, valproate, carbamazepine

translocation, t(9;22) - good prognosis in CML, poor prognosis in AML + ALL