Medical Cases

History: A 14 year-old boy presented with progressive proximal weakness of the lower limbs starting at 4 years of age followed by involvement of the upper limbs. He is the product of a consanguineous marriage. Clinically, he had flaccid quadriparesis with wasting and contractures without any sensory or neurological involvement. His weakness worsened leading to an inability to walk without support by the age of 8 and total wheelchair dependence by the age of 11. He was frequently admitted to hospital with chest infections. The patient’s creatine kinase was 2600 IU/L (normal 50–150 IU/L) and muscle biopsy from left quadriceps showed rounded small muscle fibres with evidence of degeneration and an absence of dystrophin protein. What’s the diagnosis?

Answer: Duchenne muscular dystrophy is a X-linked recessive genetic disorder.

Cause: Gene mutation of dystrophin protein.

Signs and symptoms: Muscle weakness, scoliosis, Respiratory Infections, Gowers’s sign.

Diagnosis: Creatine kinase (CPK-MM), DNA test, Muscle biopsy, Prenatal tests.

Treatment:

• Corticosteroids such as prednisolone and deflazacort lead to short-term improvements in muscle strength and function up to 2 years.
• The medication eteplirsen, a Morpholino antisense oligo for the treatment of mutations amenable to dystrophin exon 51 skipping.
• The medication ataluren (Translarna) is approved for use in the European Union.
• The antisense oligonucleotide golodirsen (Vyondys 53) was approved for medical use in the United States in 2019, for the treatment of cases that can benefit from skipping exon 53 of the dystrophin transcript.
• The Morpholino antisense oligonucleotide viltolarsen (Viltepso) was approved for medical use in the United States in August 2020, for the treatment of Duchenne muscular dystrophy (DMD) in people who have a confirmed mutation of the DMD gene that is amenable to exon 53 skipping.
• Casimersen (Amondys 45) was approved for medical use in the United States in February 2021, and it is the first FDA-approved targeted treatment for people who have a confirmed mutation of the DMD gene that is amenable to exon 45 skipping.

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History: A 24-year-old male presented to the hospital with a cough productive of reddish sputum and shortness of breath of 6 days duration. The exam showed a left testicular mass. What’s the finding in the chest x-ray?

Answer: Cannonball metastases refer to multiple large, well-circumscribed, round pulmonary metastases. The primary tumors for these lesions can be remembered with the help of this mnemonic:

CRESP
Mnemonic
C: choriocarcinoma
R: renal cell carcinoma
E: endometrial carcinoma
S: synovial sarcoma
P: prostate carcinoma

Clinical Rounds by ClinicHours

History: A 60 yr old male had developed livedo reticularis on the left side of his face after he underwent stenting and balloon dilation of the left common carotid artery. Shivering, sweating, and confusion developed immediately after artery dilation, along with a left gaze preference, dysarthria, and hemiparesis on the right side of his body. Angiography showed a patent left internal carotid artery and an occluded distal left facial artery. No IC bleed on NCCT head. What’s the diagnosis?

Answer: The patient was transferred to the ICU, where MRI angiography of the brain revealed infarctions in the territory of the left middle cerebral artery with patent vasculature. An acute embolic stroke and cholesterol embolization syndrome of the face was diagnosed. In cholesterol embolization syndrome, atherosclerotic plaque contents from large-caliber arteries embolize to smaller arteries and lead to vascular occlusion, inflammation, and end-organ damage. Livedo reticularis is one of the most common skin manifestations of the syndrome. The patient received supportive care in the ICU. The livedo reticularis resolved 1 week after the event, but the neurologic deficits persisted at the time of his discharge from the hospital.

Clinical Rounds by ClinicHours

History: A healthy 1-year-old boy with the unremarkable medical history presented to a private clinic for a routine examination. Flushing & gustatory sweating was noted on the child’s left cheek. What’s the diagnosis?

Answer: Auriculotemporal nerve syndrome (Frey’s syndrome, Baillarger’s syndrome, Dupuy’s syndrome, or Frey-Baillarger syndrome) usually manifests as immediate unilateral or bilateral flushing, sweating in the distribution of the auriculotemporal nerve, or both in response to gustatory or tactile stimuli. In adults, this syndrome is a well-recognized sequela of parotid surgery, trauma, or infection. It occurs rarely in children, most often noted after the introduction of solid food. The flushing is often attributed erroneously to food allergy. It typically begins at 2–6 months of age when solid foods, mostly fruit, are introduced. Occurring within a few seconds of eating, it has a peculiar distribution in a triangular area that extends from the tragus of the ear to the midpoint of the cheek. It is not associated with sweating and persists for 20–60 min. The flushing continues to occur for up to 5 years. In adults, gustatory sweating is the predominant feature of auriculotemporal nerve syndrome; flushing happens less often. One-half of pediatric patients with this symptom were delivered with forceps assistance, which possibly causes trauma to the nerve. The likely mechanism is a misdirection of parasympathetic fibers along sympathetic pathways during the nerve regeneration that follows trauma. This may account for erythema when eating. The emergence of symptoms several months after the proposed trauma (usually 3–6 months) is probably related to the time required for nerve regeneration, and it is possible that vigorous chewing causes intense stimulation of the parotid gland.

Clinical Rounds by ClinicHours

History: A 12-year-old boy presents with a sore throat, difficulty swallowing, inability to fully open his mouth, trismus, drooling, and a “hot-potato” voice. What is the diagnosis?

Answer: Peritonsillar abscess, aka quinsy is an accumulation of pus due to an infection behind the tonsil.

Symptoms: Fever, throat pain, trouble opening the mouth, and a change to the voice. Pain is usually worse on one side.

Complications: Blockage of the airway or aspiration pneumonitis, retropharyngeal abscess.

Cause: Commonly involved aerobic pathogens include Streptococcus, Staphylococcus, and Haemophilus. The most common anaerobic species include Fusobacterium necrophorum, Peptostreptococcus, Prevotella species, and Bacteroides.

Diagnosis: Medical imaging may include CT scan, MRI, or ultrasound.

Treatment: Antibiotics, volume repletion with fluids, and pain medication, in cases where airway obstruction or systemic sepsis occurs, surgical drainage may be necessary.

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History: A 16-year-old male patient who is known to have HBSS disease, presented with a history of chest and back pain for a few days prior to admission. He also complained of a nonproductive cough for 2 days but denied fever. On examination, his HR 110, RR 25, Temp – 103F. On chest exam, he had left basal crackles with decreased air entry. His chest x-ray showed left retrocardiac and left lower lung zone opacity suggesting left lower lobe consolidation. What is the likely diagnosis?

Answer: Acute chest syndrome is a vaso-occlusive crisis of the pulmonary vasculature commonly seen in people with sickle cell anemia. This condition commonly manifests with a new opacification of the lung(s) on a chest x-ray.

Signs and symptoms:

ACS is defined by a new pulmonary density on chest imaging involving at least one complete lung segment and at least one of the following [68]:

• Temperature ≥38.5°C
• >3 percent decrease in SpO2 (oxygen saturation) from a documented steady-state value on room air
• Tachypnea (per age-adjusted normal)
• Intercostal retractions, nasal flaring, or use of accessory muscles
• Chest pain
• Cough
• Wheezing
• Rales

Investigations: CBC, CXR, Blood culture, LFT, KFT, ABG

Treatment: Bronchodilators, Antibiotics, Supplemental oxygen, Non-invasive/ invasive ventilation.

Clinical Rounds by ClinicHours

History: A 65 year old male with HTN presented to the ED with a 1-week history of progressive SOB. On physical examination, BP 140/62 mm Hg, HR 120 bpm, RR 30, and SP02 92% on 3L of O2 by nasal cannula. The cardiac examination was notable for a crescendo–decrescendo systolic murmur and a decrescendo diastolic murmur. The ophthalmologic examination revealed dilation and constriction of the pupils, synchronized with the patient’s heartbeat. What’s the diagnosis?

Answer: Landolfi’s sign is seen in patients with severe aortic regurgitation and is a manifestation of wide pulse pressure and large stroke volume in the iridial vessels, which causes systolic constriction and diastolic dilation of the pupils. Transthoracic echocardiography revealed severe aortic regurgitation with dilatation of the ascending aorta and a dissection flap. CT scan of the aorta showed a Stanford type A aortic dissection. The patient underwent the replacement of his ascending aorta and aortic valve (Bentall procedure). On discharge 10 days later, Landolfi’s sign was no longer present.

Reference: NEJM

Clinical Rounds by ClinicHours

History: A 33-year-old man presented to the ED with low-grade fever for 3 weeks, vomiting for 1 week and anuria for 3 days. He also reported dysuria and breathlessness for 1 week. There was no history of decreased urine output, dialysis, effort intolerance, chest pain or palpitation, dyspnoea and weight loss. Family history included smoky urine in his younger brother in his childhood. Severe pallor was present with mild pedal oedema. BP 180/100 mm Hg and P 116/min regular. No evidence of jaundice, clubbing cyanosis or lymphadenopathy was found. Physical examination revealed bibasilar end-inspiratory crepitations in lungs and suprapubic tenderness. There was no hepatosplenomegaly or ascites. Cardiac examination was normal. He was found to have severe bilateral hearing loss, which was gradually progressive for 5 years. Slit-lamp examination showed bilateral anterior lentiglobus with posterior lenticonus. What’s the diagnosis?

Answer: Alport syndrome is caused by mutations in COL4A3, COL4A4, and COL4A5, three of six human genes involved in basement membrane (type IV) collagen biosynthesis.

Signs & symptoms: Hereditary nephritis, sensorineural hearing loss, retinopathy, anterior lenticonus.

Diagnosis: At least 4 of the following 10 criteria should be fulfilled:

1. A family history of nephritis in a first-degree relative male linked to the index case.
2. A history of persistent haematuria.
3. Bilateral SNHL involving higher frequencies.
4. Widespread GBM ultrastructural abnormalities.
5. Ocular findings such as anterior lenticonus and retinal flecks.
6. Mutation in COL4A gene.
7. Immunohistochemical evidence of partial or complete loss of Alport epitope.
8. Gradual progression to ESRD in at least relatives of index case.
9. Macrothrombocytopenia.
10. Diffuse leiomyomatosis.

Differential diagnosis: Thin basement membrane disease (TBMD), Mesangial IgA nephropathy, Drug-induced renal and ototoxicity (eg, aminoglycosides), Branchio-otorenal syndrome.

Treatment: ACE inhibitors, dialysis or transplantation.

Clinical Rounds by ClinicHours

History: An infant presented in ER with respiratory distress & cyanosis. Examination shows clubbing, single S2, and ejection systolic murmur best heard in the pulmonary area. What is the most likely diagnosis?

Answer: Tetralogy of Fallot (TOF) is caused by the anterosuperior displacement of the infundibular septum. Most common cause of early childhood cyanosis.

Components: PROVe

• Pulmonary infundibular stenosis (most important determinant for prognosis)
• Right ventricular hypertrophy (RVH)—boot-shaped heart on CXR
• Overriding aorta
• VSD

Mechanism: Pulmonary stenosis forces right-to-left flow across VSD →RVH, “tet spells” (often caused by crying, fever, and exercise due to exacerbation of RV outflow obstruction).

Cause: Associated with 22q11 syndromes.

Diagnosis: CXR, ECG, Echocardiography

Treatment: Total surgical repair (The repair consists of two main steps: closure of the VSD with a patch and reconstruction of the right ventricular outflow tract). Squatting: ↑SVR, ↓right-to-left shunt, improves cyanosis.

Clinical Rounds by ClinicHours

History: A 60 year old woman nursing home patient with Type2DM, HTN, and a prior haemorrhagic stroke presented to ED with progressive dyspnoea, cough with white sputum and low-grade temperature. On arrival, the patient was tachypnoeic, using accessory muscles and oxygen desaturation was noted. Physical examination showed no jugular vein engorgement, trachea was not deviated and auscultations revealed bilateral equal breath sounds with bi-basilar rales. Despite supplemental oxygen, the patient required intubation and was admitted to ICU. However, in the ICU, the patient’s saturation continued to fluctuate despite varying ventilation settings. What is the most likely cause of respiratory failure in the patient?

1. Pulmonary oedema

2. Pneumonia

3. Pneumothorax

4. Foreign body aspiration

Answer: The foreign body in the right bronchus. The foreign body was later found to be a suction tube used by the nursing home, which was suspected to have broken off at some point for unknown reason.

The ABCDEFGHI mnemonic is very useful: A stands for assessment of quality and airway. The X-ray here was a supine AP view, with poor inspiration of only six posterior rib visible, and reviewing the airway, there was no tracheal deviation, the endotracheal tube was in place but a suspicious object could be seen in the right bronchus. The rest of the mnemonic would be: B for bones and soft tissue (no bone fractures and no subcutaneous air). C for cardiac silhouette, D for diaphragm, E for effusion, F for fields, fissure and foreign body, (pneumonia, pulmonary oedema and pneumothorax) are not seen but there are three foreign bodies: the endotracheal tube, VP shunt and again, one in the right bronchus, G for gastric bubble and great vessels, H for hila and mediastinum and lastly I for impression. Using this standardised approach, we would have a greater chance of identifying the foreign body and thus provide more timely management for the patient.

Reference: BMJ

Clinical Rounds by ClinicHours