Chapter 29 Miscellaneous cases in adulthood

Case 29.1

1. Name at least two possible causes of the presentation.

2. How can you distinguish between these differential diagnosis?

A tumour is usually solid in consistency, and will not transilluminate. As a hydrocoele is fluid filled, placing a torch behind the scrotum and through the mass will result in the transmission of a red glow. (The room should be dark.)

3. Does this patient require referral to a medical practitioner? How urgent is the situation? What investigations are required?

Yes, referral is needed. At 22 years of age this patient is within the peak period for development of testicular tumours. He will need to have an ultrasound examination of his scrotum.

4. Describe the basic pathology for each of your differential diagnoses.

• Tumours: there are a number of different types of testicular tumours. They are predominantly of germ cell origin (eg: seminoma, teratoma, embryonal carcinoma, choriocarcinoma and ‘mixed’), and a few are of Stromal origin (eg: Leydig cell tumour). They are usually unilateral, and although the peak incidence is from 15–36, they may even occur in infants.

• Hydrocoeles are collections of fluid within the tunica vaginalis of the testes. They are a very common cause of testicular enlargement, and can be classified as primary or secondary (eg: to a tumour or infection).

Case 29.2

1. What is your differential diagnosis?

• Balanitis, complicating a possible phimosis.

• Paraphimosis (less likely, due to the history of ‘ballooning’ with urine during urination).

2. For each of these diagnoses, compile a table which compares their aetiology and clinical manifestations.

Disorder	Aetiology	Clinical features
Phimosis	• This refers to an inability to retract the foreskin over the glans of the penis • It is physiological in newborns. There is usually gross narrowing of the preputial orifice • It may also be due to scarring following the trauma of forcible retraction of the prepuce or from chronic balanitis • It may also be congenital	• In physiological phimosis, the prepuce is seen to balloon during micturition, and the urinary stream is reduced to a dribble • In pathological phimosis, there may be evidence of scarring and a poor urinary stream. They may have a history of haematuria, infections and painful erections
Paraphimosis	• Foreskin becomes retracted around the corona, and interferes with the venous return of the glans • It may be precipitated by forceful retraction of the foreskin • Other causes include balanoposthitis or vigorous sexual activity	• Swelling of glans penis and extreme pain
Balanitis	• An acute inflammation of the glans of the penis, usually due to common pyogenic organisms (eg: E coli, staphylococcus or streptococcus). Occasionally candida albicans is a cause	• Pain and swelling of the inflamed area • It may result in phimosis, due to scarring

3. What recommendations will you give John?

To see his medical practitioner immediately.

Case 29.3

1. What anatomical structure is most likely the source of the mass? Why?

Thyroid gland, as it is a midline structure. Other midline structures would be unlikely to cause such a large mass.

Lymph nodes, a common source of neck lumps, are not usually midline.

2. If she was your patient, what questions would you ask, and what would you examine, in order to:

a confirm the likely source of the mass

Investigate the history by questioning:

• duration the mass has been present

• its rate of growth

• any pain or tenderness

• does it interfere with swallowing

• any previous or similar episodes

• anyone else with a neck mass in the family (may be an endemic goitre)

• any associated symptoms

• any symptoms which relate to under- or over-activity of the thyroid gland.

Examination: examine the mass to determine the following parameters: size, consistency, mobility, attachment to surrounding tissue, tenderness, presence of an overlying bruit, any pulsations etc.

Ask her to swallow. If it rises with swallowing, it is either the thyroid gland or a thyroglossal cyst. To distinguish between these two disorders, ask her to protrude her tongue. If it elevates, it is a thyroglossal cyst.

b assess the activity of the tissue mass

The patient should be asked about the presence of symptoms, and examined for signs, that relate to her metabolic rate and the activity of her nervous system. Both of these are influenced by thyroid hormones. This includes the following:

• Do you find that you prefer a cold or a warm environment?

• Have you noticed a change in your weight?

• Any changes in bowel activity?

• Any changes in your voice or speech?

• Do you ever have palpitations?

• Any changes in your skin, hair or eyes?

• Are you sweating more than usual?

• Do you have any muscle weakness?

• Have you noticed any changes in your eyes?

• Do you find that your thinking is a little sluggish?

The following table describes the major changes that can typically occur with changes in thyroid activity.

Possible clinical features which may be elicited if the thyroid is overactive	Possible clinical features which may be elicited if the thyroid is under-active
• Increased metabolism causing loss of weight, despite an increased appetite • The increased cardiac output required to meet the increased metabolic demands, plus the effects of T3 and T4 on the sympathetic nervous system, may result in tachycardia or arrhythmias (eg: atrial fibrillation) • Palpitations may result • Systolic hypertension +/− heart failure • Intolerance of warm temperature • Diarrhoea • Hands warm and sweaty • Fine tremor — place sheet of paper on dorsum with the fingers separated • Eyes: • exophthalmos • excessive grittiness and lacrimation made worse by wind and bright light, and pain which may be due to conjunctivitis or corneal ulceration • there may be loss of visual acuity and/or visual field resulting from corneal oedema or optic nerve compression • If the extra-ocular muscles are involved, diplopia may result • May or may not have clinically detectable enlargement of thyroid gland • Proximal myopathy — common, and manifests by weakness and wasting in the limb girdles and neck flexors • Skin — thickened, reddened, cool and hairless, over the lateral lower leg • Less commonly — finger clubbing, reduced fertility and menstrual irregularities	• Face: boggy eyelids, puffy face, sallow or reddish tinge due to carotenaemia, thick lips and enlarged tongue • Hair: dry, brittle, falls out, sparse outer third of eyebrow • Skin: thickened, dry and cool, non-pitting oedema due to increase in mucoprotein ground substance — the hallmark of myxoedema • Speech: slow in rate, as well as in thought, and associated with a husky voice • Appetite reduced, constipation, weight gain • Lethargy and apathy • Diminished libido • Lack of ovulation • Reflexes: (especially ankle and knee) may be myotonic — brisk contraction with slow relaxation • Nervous system: • may be drowsy — can present in coma with hypothermia (can reach as low as 32 degrees Centigrade) • deafness • cerebellar signs may also occur • carpal tunnel syndrome • Cardiovascular system: • sinus bradycardia and decreased respiratory rate • cardiac enlargement with cardiac failure secondary to ischaemic heart disease • pericardial effusion occasionally occurs

Possible clinical features which may be elicited if the thyroid is overactive

Possible clinical features which may be elicited if the thyroid is under-active

• Increased metabolism causing loss of weight, despite an increased appetite

• The increased cardiac output required to meet the increased metabolic demands, plus the effects of T3 and T4 on the sympathetic nervous system, may result in tachycardia or arrhythmias (eg: atrial fibrillation)

• Palpitations may result

• Systolic hypertension +/− heart failure

• Intolerance of warm temperature

• Diarrhoea

• Hands warm and sweaty

• Fine tremor — place sheet of paper on dorsum with the fingers separated

• Eyes:

• exophthalmos

• excessive grittiness and lacrimation made worse by wind and bright light, and pain which may be due to conjunctivitis or corneal ulceration

• there may be loss of visual acuity and/or visual field resulting from corneal oedema or optic nerve compression

• If the extra-ocular muscles are involved, diplopia may result

• May or may not have clinically detectable enlargement of thyroid gland

• Proximal myopathy — common, and manifests by weakness and wasting in the limb girdles and neck flexors

• Skin — thickened, reddened, cool and hairless, over the lateral lower leg

• Less commonly — finger clubbing, reduced fertility and menstrual irregularities

• Face: boggy eyelids, puffy face, sallow or reddish tinge due to carotenaemia, thick lips and enlarged tongue

• Hair: dry, brittle, falls out, sparse outer third of eyebrow

• Skin: thickened, dry and cool, non-pitting oedema due to increase in mucoprotein ground substance — the hallmark of myxoedema

• Speech: slow in rate, as well as in thought, and associated with a husky voice

• Appetite reduced, constipation, weight gain

• Lethargy and apathy

• Diminished libido

• Lack of ovulation

• Reflexes: (especially ankle and knee) may be myotonic — brisk contraction with slow relaxation

• Nervous system:

• may be drowsy — can present in coma with hypothermia (can reach as low as 32 degrees Centigrade)

• deafness

• cerebellar signs may also occur

• carpal tunnel syndrome

• Cardiovascular system:

• sinus bradycardia and decreased respiratory rate

• cardiac enlargement with cardiac failure secondary to ischaemic heart disease

• pericardial effusion occasionally occurs

4. What investigations would be most appropriate?

• Thyroid function tests: free thyroxine index and TSH levels.

• If Graves’ disease is suspected, measurement of thyrotropin-receptor antibodies can be done.

• If Hashimoto’s thyroiditis is suspected, measurement of serum antithyroid peroxidase (anti-TPO) antibody and antithyroglobulin (anti-Tg) antibody levels may be done.

• Organ imaging may be required. Radionuclide scanning is rarely done today. Ultrasonography is more frequently used, as continuing improvements in the technology have assisted its diagnostic efficacy.

Case 29.4

1. Name the deformity shown in the photograph.

The deformity is called a claw hand.

2. In what conditions may this deformity be found?

Ulnar nerve damage.

4. For each of the following actions, name the muscles and nerves responsible for each.

Action	Muscles responsible	Innervation
Opposition of thumb	Opponens pollicis	Median and ulnar
	Abductor pollicis brevis
	Flexor pollicis brevis
Extension of thumb	APL, EPB, EPL	Radial
Abduction of thumb	Abductor pollicis brevis	Median
Flexion of thumb	Flexor pollicis brevis	Median and ulnar
Adduction of thumb	Adductor pollicis, 1st palmar interosseous	Ulnar
Flexion of fingers at MCP	Lumbricals Palmar interossei Dorsal interossei	Ulnar (medial 2) and median (lateral 2) Ulnar Ulnar
Extension of fingers at MCP joints	ED, EI, EDM	Radial
Abduction of fingers at MCP joints	Dorsal interossei	Ulnar
Adduction of fingers at MCP joints	Palmar interossei	Ulnar
Flexion of fingers at PIP joints	FDS	Median and ulnar
Flexion of fingers at PIP joints	FDP	Median
Flexion of fingers at DIP joints	FDP	Median and ulnar
Extension of fingers at IP joints	Lumbricals	Median and ulnar
	Palmar interossei	Ulnar
	Dorsal interossei	Ulnar
Abducts little finger	Abductor digiti minimi	Ulnar
Flexes little finger	Flexor digiti minimi	Ulnar
Draws 5th digit forward and rotates it so it can meet the opposing thumb	Opponens digiti minimi	Ulnar
Flexion of hand	FCR	Median
	FCU	Ulnar
	(Also FDS, FDP, PL, FPL to a lesser degree)	Ulnar
Extension of hand	ECU, ECRL, ECRB, (ED, EDM, EI, EPL, EPB to a lesser degree)	Radial