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challenging case, enough attention should be paid to all symptoms and signs however small and unrelated they might appear. Special attention should be paid while
handling a certain group of patients, for example, the elderly, women, and pediatric
group of patients. The elderly usually exaggerate their symptoms, whereas females
are hesitant to express themselves to the opposite sex (male doctors), and children
are the most difcult to handle; while attending to a pediatric patient, one should
seek the company of the parents of the child which helps immensely in reaching a
diagnosis. Certain barriers like religious beliefs, language, and the degree of education prevent reaching a diagnosis, depending on the familiarity with the language,
patient’s often present a similar complaint in multiple different ways. It is always a
good practice to get acquainted with the frequent medical conditions endemic to the
population visiting the ER of a particular hospital. Such an approach helps in saving
precious time when patients present to the ER.One should not hesitate to ask for
additional investigations to reach a nal diagnosis. It is not necessary to reach a
quick diagnosis, but a complete workup including appropriate history, paying adequate attention to all symptoms and signs, and nally correlating these with the test
reports help save not only the patients but also the doctors from many unpleasant
situations later. Multiple sclerosis is the most common nontraumatic cause of ER
visits in the younger generation with a majority of them being young women in their
reproductive age group. The present pandemic (COVID-19), work from home, as
well as stress, increased incidence of smoking, obesity, sedentary lifestyle, lack of
exercise, and vitamin D deciency have contributed to an increased incidence in the
recent past. Patients may present with relapsing and recurrence of symptoms and
need to be evaluated adequately before conrming the diagnosis.
Clinical Case Presentation
A 40-year-old African American lady was brought to the ER with a history of severe
headaches and vomiting for a couple of hours. She mentioned a progressive difculty in reading and also about an episode of tripping while climbing stairs not so
long ago apart from urinary incontinence on arrival at ER.She was briey questioned, and a note was made that she had a history of multiple sclerosis but was
asymptomatic for the last couple of months. She had a history of cigarette smoking
but was willing to give up. She also gave a history of another elder sibling suffering
from progressive multiple sclerosis. The mention of increasing pain in her legs and
easy fatigue over the last couple of weeks was brushed aside, and she was admitted,
and given IV uids along with some pain relief medication. She was advised to
continue the medication for a couple of more days and was discharged after a day
with a diagnosis of acute migraine with dehydration. The doctor in ER did not feel
it was necessary to investigate nor take opinions from other senior colleagues before
starting her on symptomatic treatment. She revisited ER the following day nding
no relief of symptoms and requested to see a specialist given her history. A specialist neurologist on call was more than happy to see her and was quick to diagnose
19 Multiple Sclerosis Is Misdiagnosed asMigraine
relapsing-remitting multiple sclerosis (RRMS). She was managed symptomatically
and asked to follow up with a neurologist for a disease-modifying therapy and longterm relief of symptoms.
127
Differential Diagnosis
The ER physician must be aware of several pitfalls in the diagnosis of MS.Many
inammatory diseases of the CNS such as the following:
1. Neuromyelitis optica spectrum disorder (NMOSD) secondary to syphilis infection and Vitamin B12 deciency.
2. Acute disseminated encephalomyelitis (ADEM) secondary to Lyme diseases
and copper deciency.
3. Sjogren’s syndrome, secondary to HIV and leukodystrophies.
4. CNS lupus antiphospholipid antibody syndrome.
5. Sarcoidosis, CNS vasculitis, and migraine [1] can all mimic MS.
Discussion
The doctors working in ER should have good knowledge about the most frequently
encountered problems endemic to the geographical location [2] and think of the
most common diseases rst. In the index case, the patient had a previous history of
multiple sclerosis (MS); despite this, the symptoms were assigned to migraine.
Although the symptomatology of both these diseases is similar, the experience of
the doctors at the rst point of contact almost always dictates further treatment to
the patient. Patients suffering from MS usually relapse with gradual worsening of
symptoms over several hours to days and then depending on accessibility to medical
care recovery throughout time [3]. There is an increase in the incidence of MS in the
post-pandemic world as a result of frequent lockdowns, limited outdoor activities
with reduced exposure to sunlight, and the growing problem of vitamin D deciency [4], which only seems to contribute increasingly. Women have an increased
risk of MS than men and women who are current smokers have a higher risk [5]. MS
is characterized by pathology of periventricular inammatory lesions resulting in
demyelinating plaques of oligodendrocytes [6]. Axonal damage is rare in the initial
stages and gradually worsens as the disease progresses [7]. Although MS exists
clinically in three different forms, the pathological changes are continuous, and
there is no characteristic difference histologically between them as remyelination is
seen in all disease stages [7]. Symptoms of MS are a combination of lesion size and
location. Every relapse occurs following the development of many asymptomatic
lesions. MS can best be described as a disease spectrum extending from relapsing to
progressive, from inammation leading to neurodegeneration indicating that
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A. Vasu
inammation is present from the beginning which is later accompanied by neurodegeneration as the years pass [3]. This also presents a growing point of view that MS
is a precursor for other neurodegenerative diseases like Alzheimer’s and Parkinson’s.
Finally, there is no single conrmatory diagnostic test for MS.The diagnosis is
based on the clinical ndings supported by investigations. Magnetic resonance
imaging (MRI) happens to be an important diagnostic tool for establishing MS.All
suspected patients should have an MRI of the brain to help conrm the diagnosis
[8]. The 2017 revision of McDonald’s criteria for MS diagnosis was proposed by
the European magnetic resonance imaging in MS (MAGNIMS) and is now accepted
for early diagnosis as a criterion for starting disease-modifying treatment for
MS.There is a strong voice of concern raising ethical questions about the division
of MS into different subclasses by the pharma industry to begin interferon-beta
treatment for MS [9]. Understanding the spectrum of MS is important for early
diagnosis as effective disease-modifying treatment will benet all patients.
Conclusion
Multiple sclerosis (MS) is usually a disease with prolonged periods of symptomsfree intervals; a diagnosis of MS should be suspected in all patients with optic neuritis unless proved otherwise. MS is a complex disease with no pathognomonic
symptoms or signs, and clinical experience plays a signicant role in diagnosis and
treatment as no single conrmatory diagnostic test exists for MS.The diagnosis is
based on the clinical ndings supported by investigations. Magnetic resonance
imaging (MRI) is used for establishing MS.With increasing access and using diagnostic tools like MRI, it is now possible to diagnose MS early. Patients often experience a relapse of the disease over hours to days, while each clinically relevant
episode leaves a scar as evidenced in several clinical trials involving MRI, and each
episode causes some percentage of neuronal loss which eventually reaches a stage
where neurological decits start to manifest. Irrespective of the subtype of MS
(relapsing-remitting, primary progressive, or secondary progressive), adequate
treatment with the possible use of immunomodulatory drugs can signicantly
improve patient quality of life.
References
1. Pakpoor J, Handel AE, Giovannoni G, Dobson R, Ramagopalan SV.Meta-analysis of the rela-
tionship between multiple sclerosis and migraine. PLoS One. 2012;7:e45295.
2. Browne P, Chandraratna D, Angood C, etal. Atlas of multiple sclerosis 2013: a growing global
problem with widespread inequity. Neurology. 2014;83:1022–4.
3. Lublin FD, Reingold SC, Cohen JA, etal. Dening the clinical course of multiple sclerosis: the
2013 revisions. Neurology. 2014;83:278–86.
19 Multiple Sclerosis Is Misdiagnosed asMigraine
4. Sintzel MB, Rametta M, Reder AT.Vitamin D and multiple sclerosis: a comprehensive review.
Neurol Ther. 2018;7:59–85.
5. Palacios N, Alonso A, Brønnum-Hansen H, Ascherio A. Smoking and increased risk of
multiple sclerosis: parallel trends in the sex ratio reinforce the evidence. Ann Epidemiol.
2011;21:536–42.
6. Karussis D. The diagnosis of multiple sclerosis and the various related demyelinating syn-
dromes: a critical review. J Autoimmun. 2014;48–49:134–42.
7. Lassmann H. Pathology and disease mechanisms in different stages of multiple sclerosis. J
Neurol Sci. 2013;333:1–4.
8. Thompson AJ, Banwell BL, Barkhof F, etal. Diagnosis of multiple sclerosis: 2017 revisions of
the McDonald criteria. Lancet Neurol. 2018;17:162–73.
9. Dobson R, Giovannoni G.Multiple sclerosis a review. Eur J Neurol. 2019;26:27–40.
129
Part IV
Endocrinology
Chapter 20
Addison’s Disease Along
withHyperkalemic Periodic Paralysis
andAcute Renal Failure Misinterpreted
asPeripheral Motor Neuropathy
BilalHaiderMalik andMominaShahidHameed
Learning Objectives
By the end of this presentation, the clinician will be able to:
1. Identify the causes of hyperkalemia.
2. Discuss the causes of generalized weakness.
3. Articulate the knowledge to link different symptoms and investigation results to
develop a working diagnosis.
4. Discuss the role of multiple comorbidities in a complex presentation.
5. Identify presentations mimicking peripheral motor neuropathy.
Introduction
Primary adrenal insufciency is an uncommon condition that can be hard to diagnose because of ambiguous signs and symptoms which patients present with such
as exhaustion, weakness, anorexia, and skin hyperpigmentation. Hyponatremia and
hyperkalemia are two electrolyte disorders that are frequently encountered.
Hyperkalemia can be because of the acute kidney injury (AKI) in hyperkalemic
periodic paralysis with ARF, which can plausibly be confused with presentation of
Addison’s disease. ARF has been documented to be a presenting symptom of primary adrenal insufciency in a few cases in the literature [1–3]. Peripheral motor
B. H. Malik (*)
Dermatology, Betsi Cadwaladr University Health Board, Mold, Wales
M. S. Hameed
Partner GP, Strathmore Medical Practice, Wrexham, Wales
© The Author(s), under exclusive license to Springer Nature Switzerland AG 2023
H. Tohid et al. (eds.), The Misdiagnosis Casebook in Clinical Medicine,
https://doi.org/10.1007/978-3-031-28296-6_20
133
134
B. H. Malik and M. S. Hameed
neuropathy can be a rare diagnosis to make which has a varied presentation and can
be a challenge to diagnose so delayed diagnosis is a valid probability. On the same
lines, hyperkalemic periodic paralysis is another rare diagnosis which has to be
clinically and serologically correlated. This case also highlights how different systems of the body are physiologically dependent on each other to maintain
homeostasis.
Clinical Case Presentation
A 37-year-old presented after waking up from a nap, with severe weakness of his
limbs. He previously had comparable episodes of sensations of weakness after prolonged periods of rest, but none as severe as this episode. There was no history of
trauma or any gastrointestinal symptoms. The patient didn’t have any other noteworthy medical history. The patient had low blood pressure (BP) when he arrived at
the accident and emergency department (A&E) of 88/60mm of Hg and a pulse of
98/min. Physical examination revealed intact sensations along with motor weakness
in all four limbs. The patient went into cardiac arrest while having labs done.
Rhythm revealed sinus rhythm with QRS complex widening and prolonged PR
interval. Patient was resuscitated and intubated, with spontaneous circulation returning with 10min of CPR. Acute renal damage with serum creatinine of 2.2mg/dL,
hyponatremia of 117mmol/L, and hyperkalemia of 7.9mmol/L were found in his
blood work. Patient received emergency hemodialysis for hyperkalemia and then
transported to the ITU.MRI in cervical spine and brain was performed to rule out
central nervous system causes of paralysis, but the results were normal. Nerve conduction studies were performed to rule out possible peripheral motor neuropathy,
which were inconclusive. Viral causes were ruled out using swabs for respiratory
viruses, which included enteroviruses, as well as CMV serology and HIV serology.
Negative thyroid peroxidase antibodies and normal TSH ruled out thyroid abnormality as a reason for paralysis. The urine toxicology testing came back negative as
well. Antibodies to ANA, ANCA, rheumatoid factor, double-stranded DNA, antiSSB, anti-SCL-70, and anti-SSA turned out to be negative that ruled out vasculitis.
A draining urinary catheter ruled out an obstructive uropathy as the source of the
ARF and hyperkalemia, while imaging revealed no evidence of retention.
Rhabdomyolysis was ruled out as myoglobin and creatine phosphokinase (CPK)
levels were normal. Hypotension, hyperkalemia, and hyponatremia led to a possible
diagnosis of adrenal insufciency as a differential. Plasma renin activity, serum
cortisol, aldosterone levels, and ACTH were all checked. It showed low aldosterone
and increased renin and ACTH levels along with very low cortisol levels of 0.2g/
dL.Imaging revealed bilateral atrophic adrenal glands. Diagnosis of primary adrenal insufciency was made. Additional testing showed adrenal antibodies, which
20 Addison’s Disease Along with Hyperkalemic Periodic Paralysis and Acute Renal…
could indicate autoimmune cause. Patient had hemodialysis for another 72h. On
renal replacement therapy (RRT), his potassium levels gradually normalized. On the
fth day of his hospitalization, he was taken off the RRT and was extubated. His
motor weakness had fully vanished by this point. The patient was eventually discharged on udrocortisone and hydrocortisone.
135
Differential Diagnosis
1. Glomerulonephritides – Glomerulonephritides can have a varied presentation
and causes culminating in acute or chronic renal failure leading to electrolyte
disturbances.
2. Motor neuron disease– Motor neuron disease has multiple presentations with a
host of causes. Can lead to paralysis.
3. Peripheral motor neuropathies– Peripheral motor neuropathies present with different signs and symptoms. Investigative results can compound the confusion
related to diagnosis.
4. Vasculitides (systemic)– Systemic vasculitides can affect different organs of the
body concurrently or spaced in time. Patients with multiple organ involvement
must be investigated for these.
5. Autoimmune disease processes like systemic lupus erythematosus– Autoimmune
diseases can be challenging to diagnose as they need a multidisciplinary team
approach. They need clinical and serological correlation.
Alternative Diagnosis/Potential Misdiagnosis
1. Peripheral motor neuropathy
2. Motor neuron disease
3. Vasculitides
Note
Alternative diagnoses were considered, and the correct diagnosis was made in light
of all available information.
136
B. H. Malik and M. S. Hameed
Discussion andAction Plan
Addison’s disease is an endocrine condition showing a prevalence of 35–140
cases per million and a mortality rate of 4 cases per million [4]. The most common cause of Addison’s illness had been tuberculosis (TB). With the development of efcient TB medicine, autoimmune reasons are now thought to be the
most common etiology [3]. Adrenal insufciency doesn’t show up on imaging
until 90% of the gland has been damaged or atrophied. With such a wide range
of symptoms, it’s notoriously tough to diagnose. Weakness, weariness, skin pigmentation, and anorexia can navigate us toward Addison’s disease, along with
hyperkalemia, hypotension, and hyponatremia. Life-threatening form of
Addison’s illness is acute adrenal crisis that affects up to 25% of patients [3].
Acute renal failure as a presenting symptom of adrenal crisis is not very common, with a reported incidence of 6% in the literature [2]. Because renal failure
can show hyperkalemia and hyponatremia, such a presentation can steer us to a
delayed or missed diagnosis of adrenal insufciency. Our patient had hyperkalemia, which could have been caused by acute renal failure. However, there was no
discernible etiology of the kidney injury. Many pathophysiological pathways
have been proposed to explain why people with adrenal insufciency develop
AKI.The likely etiology of AKI in our patient was mineralocorticoid deciencyinduced intravascular volume depletion, which led to decreased renal perfusion
and a reduction in GFR [1]. Hyperkalemia can cause paralysis which is a rare and
reversible complication. There are two types of paralysis: primary and secondary. A congenital abnormality in the SCN4A gene, which affects the sodium
channel in muscles, causes primary hyperkalemic periodic paralysis [5].
Secondary hyperkalemic paralysis can be caused by adrenal insufciency, rhabdomyolysis, acute or chronic renal failure, excessive potassium ingestion, and a
variety of medications [6, 7]. Hyperkalemic paralysis caused by primary adrenal
insufciency is uncommon, but it can result in deadly arrhythmias. Even when
the picture is confused by AKI, a strong suspicion should be maintained. In
patients with acute adrenal crisis, resuscitative and steroid replacement therapy
must be started as soon as possible. In such patients, life-threatening hyperkalemia is refractory to routine insulin dextrose therapy, as observed in our instance.
Renal replacement therapy was given to the patient to lower his potassium levels
and subsequently control his deadly arrhythmias. Mechanism of development of
hyperkalemia and subsequent paralysis in adrenal crisis in patients with Addison’s
disease is shown in Fig.20.1.
20 Addison’s Disease Along with Hyperkalemic Periodic Paralysis and Acute Renal…
Fig. 20.1 Mechanism of
Development of Hyperkalemic
periodic paralysis in Addison’s
disease
137