Self-Recorded CPD: Spot Dx – Genetics – GEN001

CPD SPOT DIAGNOSIS ,

Self-Recorded CPD: Spot Dx – Genetics – GEN001

You can self-report this CPD/PDP activity by logging it online with the RACGP/ACRRM. The activity has been allocated 1 hour (0.5 hour EA and 0.5 hour RP). Certificates are not available for this CPD.

Test your clinical knowledge by taking the 6 quizzes below. If you select the wrong answer, have another go — you can try as many times as you like.

RACGP Activity Number: GEN001

ACRRM Activity Number: GEN001

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1. Can you shed some light on this rash query?

What is the most likely diagnosis?

<section data-block="SingleChoice"> <h3>What is the most likely diagnosis?</h3> <p><p><span style=”font-size: 14px”>Hester, a 12-year-old girl, attends with her parents complaining of a facial burning sensation with associated redness of her cheeks and tip of her nose. Her parents disclose that she has always been sensitive to the sun and cried at the beach during infancy. They hoped her symptoms would dissipate over time; however, Hester has found sun exposure to be more irritating as time has gone on. She is frustrated that the skin on her cheeks is now becoming thickened.</span></p><p><span style=”font-size: 14px”>Hester has no significant medical history and takes no medications. Her physical examination is unremarkable, apart from a non-blistering, erythematous rash on her face, and a similar-appearing rash on the dorsum of hands. A panel of bloods (FBC, EUC, LFTs, TSH, ANA and ENA) are requested, and all of these are within normal range.</span><br></p></p> <ul> <li>a. Discoid lupus erythematosus</li> <li>b. Hydroa vacciniforme</li> <li>c. Erythropoietic protoporphyria</li> <li>d. Drug-induced photosensitivity</li> </ul> </section> <p></p>Photo: Dermnet NZ

Author

Dr Paul Muthiah.

Author: Dr Paul Muthiah is a GP and a former medical co-editor of Australian Doctor.

2. What does this infant's startle response signify?

What is the most likely diagnosis?

<section data-block="SingleChoice"> <h3>What is the most likely diagnosis?</h3> <p><p><span style=”font-size: 14px”>Ariel, aged six months, presents for review and his routine immunisations. His parents describe noticing an exaggerated startle response over the last month. They are also worried as they note that Ariel could previously roll and now no longer can. His previous reviews at his immunisation schedule appointments have been unremarkable. Ariel was delivered at full term vaginally and is exclusively breastfed. Examination reveals hyperreflexia, progressive macrocephaly, and a cherry-red spot in his macula on fundoscopy.</span></p></p> <ul> <li>a. Tay-Sachs disease</li> <li>b. Friedreich ataxia</li> <li>c. Amyotrophic lateral sclerosis</li> <li>d. Gaucher disease</li> </ul> </section> <p></p>Photo: Reproduced from British Journal of Ophthalmology, Nakaya-Onishi M, et. al. 84: 1318 2000 with permission from BMJ Publishing Group Ltd.

Author

Dr Paul Muthiah.

Author: Dr Paul Muthiah is a GP and a former medical co-editor of Australian Doctor.

3. What’s behind this infant’s rash?

What is the most likely diagnosis?

<section data-block="SingleChoice"> <h3>What is the most likely diagnosis?</h3> <p><p><span style=”font-size: 14px”>Maddy, a six-week-old infant, is brought in for review by her foster parents. They are concerned about a recurrent blistering leg rash that they believe results from minor friction. They have been the registered carers of Maddy for a fortnight; her biological parents were considered unfit to care for her by social services due to drug abuse.</span></p><p style=”text-align: start”><span style=”font-size: 14px”>She was born at 36 weeks’ gestation and spent one week in the special care nursery postpartum.</span></p><p style=”text-align: start”><span style=”font-size: 14px”>Maddy is noted to have a similar blistering rash on her oral mucosa thought to be from contact with her bottle. She is also reported to have “sweaty” palms and soles which are erythematous.</span></p><p style=”text-align: start”><span style=”font-size: 14px”>Her blisters heal well but then recur with minor friction.</span></p><p style=”text-align: start”><span style=”font-size: 14px”>Further biological parent history is being sought, but social services have disclosed that Maddy’s mum is known to have had a similar skin condition and that her antenatal blood tests did not identify any transmissible disease.</span></p><p style=”text-align: start”><span style=”font-size: 14px”>Maddy is apyrexial and barring the cutaneous findings, she appears otherwise well.</span></p></p> <ul> <li>a. Congenital syphilis</li> <li>b. Staphylococcal scalded skin syndrome</li> <li>c. Burns</li> <li>d. Epidermolysis bullosa simplex</li> </ul> </section> <p></p>Photo: DermNet NZ

Author

Dr Paul Muthiah.

Author: Dr Paul Muthiah is a GP and a former medical co-editor of Australian Doctor.

4. Why did these strange swirls suddenly appear?

What is the most likely diagnosis?

<section data-block="SingleChoice"> <h3>What is the most likely diagnosis?</h3> <p><p>Charlie, a two-year-old boy, presents with his parents, who are concerned after he started developing areas of hypopigmentation on his torso and limbs. No-one else in the family has ever had a similar issue, and they have no idea as to what is causing this.</p><p style=”text-align: start”>Charlie was born at full term via a planned caesarean section. He is known to have psychomotor developmental delay, strabismus and scoliosis. He also had corrective surgery soon after birth for congenital talipes equinovarus.</p><p style=”text-align: start”>The areas of hypopigmentation appear in a swirling pattern on his trunk and are in a more linear pattern on his arms and legs.</p></p> <ul> <li>a. Naevus depigmentosus</li> <li>b. Tuberous sclerosis</li> <li>c. Vitiligo</li> <li>d. Hypomelanosis of Ito</li> </ul> </section> <p></p>Photo: DermNet NZ

Author

Dr Paul Muthiah.

Author: Dr Paul Muthiah is a GP and a former medical co-editor of Australian Doctor.

5. What congenital condition is affecting this eye?

What is the most likely diagnosis?

<section data-block="SingleChoice"> <h3>What is the most likely diagnosis?</h3> <p><p>Jessie, a 20-year-old physiotherapist, presents for a review of her vision. She lost the sight in her left eye in early childhood and wants to check that her right eye remains okay. Visual acuity in her right eye is 20/20, and her left eye has no light perception. Intraocular pressure is 22mmHg and 28mmHg in the right and left eye, respectively. A slit-lamp image of the anterior segment is shown.</p></p> <ul> <li>a. Axenfeld–Rieger syndrome</li> <li>b. Iridocorneal endothelial syndrome</li> <li>c. Peter’s anomaly</li> <li>d. Aniridia</li> </ul> </section> <p></p>Photo: BMJ Case Rep 2020; online

Author

Dr Paul Muthiah.

Author: Dr Paul Muthiah is a GP and a former medical co-editor of Australian Doctor.

6. Why are these eyes turning golden?

What is the most likely diagnosis?

<section data-block="SingleChoice"> <h3>What is the most likely diagnosis?</h3> <p><p>Lucas, a 20-year-old male, presents with fatigue, lethargy and mild generalised abdominal pain that began five weeks prior. He has noticed his urine has become dark, he has associated weight loss and his skin looks unusually sallow. He also reports that his eye colour seems to be changing, developing a golden hue. His bowel motions are normal, and he has nil fevers. He has no past medical history of note and takes no medications or supplements. He is adopted and unsure of his biological family history. He consumes four units of alcohol a week and is a non-smoker.</p></p> <ul> <li>a. Arcus senilis.</li> <li>b. Viral-induced hepatitis.</li> <li>c. Wilson’s disease.</li> <li>d. Hereditary haemochromatosis.</li> </ul> </section> <p></p>EyeRounds.org/University of Iowa

Author

Dr Paul Muthiah.

Author: Dr Paul Muthiah is a GP and a former medical co-editor of Australian Doctor.

References on request from kate.kelso@adg.com.au