Clinical cases (midterm revision) Flashcards
Clinical case
- 44-year-old male
- Mr. Miller attended an appointment with his physician due to an increased frequency of errors in work-related fine motor tasks and overall difficulty with coordination (chorea)
- physician also noted cognitive abnormalities including a short temper and unexplained outbursts
Disorder + MoI +mutation
Huntignton disease
MoI: AD , age dependent penetrance
mutation: CAG repeat expansion in the HTT gene (gain of Fxn)
clinical case
- 26-year-old male
- On general physical examination, multiple well-defined, reddish-brown sessile nodular growths on the forehead, nose, and cheeks in a characteristic “butterfly pattern,”
- Shagreen patch,
- periungual fibromas
Disorder + MoI ?
Tuberous sclerosis
MoI: AD, full penetrance (variable expressivity)
Clinical case
- 12-year-old girl
- disease started in childhood with the appearance of multiple hyperpigmented skin macules
- The girl presents generalized freckling and 7 café au lait macules > 5mm through-out the body
- examinations revel Optic glioma and 2 Lisch nodules in the iris bilaterally
Disorder+ MoI?
Nf1 - Neurofibromatosis type 1
MoI: AD (Variable expressivity)
Clinical case
- 6-year-old girl
- w/ light coulured hair, skin and eyes
- she is unable to underastand, has sever learning disability and w/ minimal use of words during speech
- She was frequently laughing or smiling, and presented with a happy demeanour
- at the age of 5 years she presented with mental retardation and epilepsy
Syndrome + MoI + mutation?
Angelman Syndrome (AS)
‘Happy puppet’ Syndrome
MoI: loss of expression of maternally inherited UBE3A gene at 15q11-q13 (microdeletion of an autosome)
Clinical case
- new-born Macrosomic baby
- physical examination
- Abnormal big tongue (Macroglossia)
- ear creases
- lab tests : Hypoglycaemia
Disorder+ type of mutation + MoI
Beckwith-Wiedmann Syndrome
MoI: paternal unipaternal disomy
Mutation in : 11p15.5 gene
Clinical case
- 18-year-old male
- moderate mental retradation
- short stature
- at infancy –> Hypotonia w difficulty feeding
- later –> no Difficulty feeding, but excessive increase in weight
- physical examination : obesity, Bitemporal narrowing
- Lab tests: Hypogonadism
Syndrome + type of mutation?
Parder-Willi Syndrome
Mutation: Loss of function of Paternally inherited genes at 15q11-q13 SNPRN,NECDIN
Clincal case
- male neonate
- On examination, he was found in “frog like position”
- neonate was sent to special care unit for Multiple deformities, fractures in both femures,the right humerus and ulnar
- He had Blue-grey sclera
Diganosis? MoI? Type of mutation
Osteogenesis Imperfecta type IV
MoI: AD (dominate negative)
Mutation: COL1A1 or COL1A2 genes
Clincial case
- 4-year-old male
- history of bruising and hematomas after slight injuries
- Presence of Skin Hyperextensibility , generalised joint hypermobility, fleshy lesions over the knees
Syndrome? MoI? mutation?
Ehlers-Danlos Syndrome - Classical Type
MoI: AD (Variable expressivity)
Mutation: in COL5A1, COL5A2
clinical case
- 42-year-old male
- presented a hemorrhagic shock due to spontaneous rupture of an ascending branch of the left colic artery
- Physical features : Thin,narrow nose, prominant eyes
- Thin translucent skin
Syndrome? MoI? Mutation?
Ehlers-Danlos Syndrome- Vascular type
MoI: AD
Mutation: in the COL3A1 gene
*genotype-phenotype correlation
clinical case
- 13-year-old girl
- Her medical history revealed that she suffered from Aortic root dilatation
- The patient appeared too thin and slender
- She had disproportionately long arms and legs as compared with the trunk
- Eyes –> Ectopia Lentis
Syndrome? MoI? mutation?
Marfan Syndrome
MoI: AD (loss of function)
Mutation: in FBN1 gene on chromosome 15q21
case report
- 14-year-old boy
- On clinical examination, it was observed that the child exhibit behavioral disorders with autistic features
- Physical examinations show Dysmorphic features : Long face, prominant chin and ears
- Joint hypermobility was also detected
Syndrome? Mutation ? MoI?
Fragile X-Syndrome
MoI: loss of fxn, X-linked inheritance (M>F)
mutation: CGG repeates in the non-coding region of FMR1 gene
(On the promotor region)
(Trinuclotide repeat)
Case report
- 35-year-old woman
- was admitted to the hospital dyspnea and chest pain (Ventricular arrythmias)
- Physical examination showed : Grip myotonia, Ptosis, facial weakness and Cataracts
Syndrome? MoI? mutation?
Myotonic Dystrophy type 1 (DM1)
MoI: AD (Anticipation mostly in maternal inheritance)
Mutation: CTG repeat at the DMPK gene (untranslated gene)
Case report
- A boy aged 12 years
- presented to the tuberculosis clinic (TB) with a several year history of a chronically productive cough with associated shortness of breath and wheeze
- His sputum culture grew Staphylococcus aureus and he was treated for a lower respiratory tract infection with 2 weeks of coamoxiclav (Recurrent infection)
Syndrome? MoI? Mutation?
Cystic fibrosis
MoI: AR
Mutation: in the CFTR gene
case report
- 15-year-old girl
- presented w/ a history of Jaundice and Involuntary movements
- Physical examinations showed Copper deposition in the Conea -Kayser Fleischer rings
Syndrome? MoI? mutation?
*Jaundice -> Hepatic failure etc
Wilson disease
Mutation: AR
MoI: In the ATP7B gene (Excessive copper metabolism)
Clinical case
- 30-year-old man w/ a history of DM
- had abnormal liver function for 9 months without specific symptoms. He underwent various tests, including liver biopsy and genetic testing, which eventually ruled out Cirrhosis and identified iron metabolic abnormalities.
- Physical examination confirmed joint pain, skin pigmentation and jaundice
Syndrome? MoI? Mutation?
Hereditary Haemochromatosis
MoI: AR, reduced penetrance
Mutation: in the HFE gene (High iron levels)
