A CASE OF RUPTURED DURAL ARTERIOVENOUS FISTULA PRESENTING AS

BILATERAL LOWER EXTREMITY WEAKNESS

Submitted to the Faculty of the

Department of Emergency Medicine

University of the Philippines – Philippine General Hospital

In partial fulfillment of the

Requirements for Residency Training

Tamara Michelle P. Dominado, M.D.

1st Year Resident

 I. ABSTRACT

Hypokalemic Periodic Paralysis (HPP) and Spinal Dural Arteriovenous Fistula (SDAVF) are both

disorders that can cause acute bilateral weakness of the lower extremities and they both have a widely

different approach to diagnosis and care. HPP is a rare disease presenting as markedly low serum

potassium and may present as bilateral lower extremity weakness.1 SDAVF is an abnormal connection

between radicular arteries and venous plexus of the spinal cord.2 It is a frequently misdiagnosed disease

of the spine due to non-specific presentation. HPP and SDAVF must be differentiated from each other and

other disease entities that can cause weakness and paralysis so that proper interventions may be done

that will lead to better outcomes.

This paper presents a case of a 22-year old female who came in at the emergency room with a three

week history of bilateral lower extremity weakness which gradually resolved, however, a day prior, was

noted with occurrence of complete paraplegia with urinary and fecal retention. Laboratories revealed

serum potassium of 1.8 mmol/L. In this report, the case and differential diagnosis is discussed, and how

the patient was diagnosed correctly leading to early surgical intervention with good outcome.

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 II. INTRODUCTION

Spinal dural arteriovenous fistula (SDAVF) is a rare and frequently misdiagnosed or underdiagnosed

disease. There are 5-10 cases per million population.2 History and physical examination are usually non-

specific and are prone to misinterpretations that lead to an array of differentials, such as polyneuropathy,

tumor, or degenerative disk diseases. Delays in definitive diagnosis and treatment may stem from

unnecessary referral to specialty services. Most patients undergo surgery and are treated as a case of

lumbar disc herniation, which does not resolve the symptoms and neuromotor deficits.3 Careful

evaluation of the patient is needed as the disease can progress and can lead to irreversible handicap.

Spinal angiography by a neuroradiologist is often needed to differentiate between other disease entities,

and is the gold standard imaging for the diagnosis of SDAVF.4

The patient, a 22-year old, female, Filipino, presented at the emergency department with a chief

complaint of lower extremity weakness and a serum potassium level of 1.8 mmol/L. A more common but

relatively rare disease may first come in to mind. Hypokalemic periodic paralysis (HPP) is a disease where

mutations in voltage-gated ion channels of the muscles causes abnormalities in excitation of the

sarcolemma. It manifests as bouts of mild to severe muscles weakness, and would be so severe as to cause

inability to move the extremities.5 The prevalence is estimated to be 1 in 100,000 more often in men than

in women. Symptoms are usually temporary, lasting for hours or days, and symptomatic individuals

usually have reduced levels of potassium in their blood. Although, repeated episodes can to a persistent

weakness in a particular muscle group.6

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OBJECTIVES

1. To present a case of spinal dural arteriovenous fistula presenting as a case of paralysis and

paresthesia of the lower extremities with incidental finding of severe hypokalemia

2. To discuss the dilemmas in diagnosing a patient presenting with paralysis and paresthesia of the

lower extremities

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 III. CASE PRESENTATION

This is the case of a 22 year old female, right handed, elementary school teacher from Cavite with no

known comorbidities, who presented at the emergency department with a chief complaint of bilateral

lower extremity weakness. At the triage, vital signs were as follows: BP 80/60, CR 24 RR 26 T 37.5 O2sat

95, with a GCS score of 15 (E4 V5 M6), and classified as an Emergency Severity Index (ESI) 1 case due to

hypotension. Hypotension was resolved with an IV fluid bolus, total of 2L, PNSS. History revealed that

three weeks prior, the patient started experiencing mid upper back pain 4/10, exacerbated while in the

upright position, with no history of trauma or carrying of heavy loads. There was also note of tingling

sensation on the lower extremity and difficulty ambulating, but resolved spontaneously. A week prior to

admission, patient noted recurrence of tingling sensation and difficult in moving lower extremities and

inability to control the bladder and bowel movements leading to urinary and fecal retention, she was

taken to a local hospital where work up with lumbosacral x-ray was done, revealing normal results. Urinary

catheter was inserted for urinary retention. Over the interim, there was gradual improvement of

movement of the lower extremities and patient claimed to be able to ambulate a day before the

admission. On the day of admission, patient noted complete paralysis and paraesthesia of the bilateral

lower extremities and still with urinary and fecal retention, thus family opted to bring her to a local

hospital, she was then transferred to PGH.

On physical examination, the patient was noted to be awake, coherent, anicteric sclerae, pink

palpebral conjunctivae, equal chest expansion with clear breath sounds, heart rate was normal with

regular rhythm, abdomen was soft and non-tender, pulses were weak, no gross deformities were noted.

Upon performing a full neurologic examination, she was noted to have normal cranial nerves. Motor

strength grading revealed normal muscle strength 5/5 at the upper extremities and 0/5 muscle strength

at the lower extremities with decreased sensation at the L4 vertebra and 0% sensation starting from the

L2 verterbra. No Babinski reflex or other pathologic reflexes noted. Laboratories were taken revealing a

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decrease in potassium and an elevated WBC count with slight neutrophilic predominance. Urinalysis

through a clean urinary catheter catch revealed positive nitrites and leucocytes which is definitive for a

urinary tract infection.

Table1. Laboratories upon at the ED level

COMPLETE BLOOD COUNT SERUM CHEMISTRY COAGULATION STUDIES

Hgb: 152g/L Na: 144 mmol/L PT Reference: 12.6 sec
Hct: 0.44 K: 1.8 mmol/L PT Time: 20.7 sec
WBC: 16.70x109/L Ca: 1.04 mmol/L % Activity: 50%
Neut: 0.80 Cl: 128 mmol/L INR: 1.62
Lymph: 0.14 Mg: 0.43 mmol/L APTT Reference: 30.38 sec
Mono: 0.06 AST: 15 U/L APTT Time: 38.6 sec
ALT: 20 IU/L
BUN: 1.9 mmol/L
Crea: 28 umol/L
RBS: 2.2 mmol/L
Alb: 14 g/L
URINALYSIS
Color yellow Albumin trace RBC 27/hpf
Transparency cloudy pH 5.5 WBC 765/hpf
Ketone +2 Nitrite POSITIVE Epithelial cells 0/hpf
Glucose +2 Leucocytes +3 Bacteria 259/hpf
Blood +3 Specific gravity 1.026 Mucus thread 4/hpf

ECG findings revealed a sinus rhythm with a rate of 100 beats per minute, no axis deviation, non-

specific ST-T wave changes, and with muscle artifacts, which can be related to the patient having chills.

The patient was started on broad-spectrum antibiotics and given potassium correction, which did not

resolve the lower extremity weakness.

Figure1. 12-lead ECG on admission

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 Patient was immediately referred to Neurology services and was subsequentlly admitted to the

Neurology ward. MRI was done with findings of an enhancing T2 isointense to hyperintense

extramedullary and intradural mass spanning T5-T9, compressing the cord. She was initially diagnosed as

a case of spinal cord compression from extramedullary and intradural mass at the T5-T9 area and was

referred to Neurosurgery services. Eventually, the patient was cleared for surgery as a Class A

neurosurgical emergency for deteriorationg neurologic function. Laminectomy at T5-T9 with evacuation

of hematoma was done with intraoperative findings of a solid and liquefied epidural hematomata T5-T9.

Patient was referred to an Interventional Radiologist who performed a spinal angiogram that revealed an

arteriovenous fistula left T6 and right T7 vertebral levels with a venous thrombosis versus mass effect

from an adjacent hematoma. The patient still did not regain movement and sensation of the lower

extremities, she was eventually discharged after 17 hospital days and referred to rehabilitation medicine

for further management.

Figure2. Patient’s MRI Angiogram of SDAVF on the T7 right and T6 left vertebral levels

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 IV. DISCUSSION

Hypokalemic Periodic Paralysis and Spinal Dural Arteriovenous Fistula are both congenital disorders

that are able to cause lower extremity weakness such as that presented in the patient. It is important to

be able to differentiate these two identities and be able to identify one from the other because they both

vastly differ in disease pathophysiology, diagnostic, and management. HPP is diagnosed by genetic testing

and is managed medically with potassium supplementation and diuretic. SDAVF is diagnosed by diagnostic

imaging through an MRI Angiogram of the spine that must be performed by a specialist and must be

immediately managed surgically to prevent permanent disabilities. There is little threat for HPP to cause

permanent disability, however, it may cause acute respiratory failure by causing diaphragmatic paralysis.

Early recognition of the disease and a good clinical judgement is needed in order to achieve a good patient

outcome.

HYPOKALEMIC PERIODIC PARALYSIS

Primary periodic paralyses are rare, genetic, autosomal dominant, neuromuscular disorders

characterized by sudden onset, recurring episodes of flaccid muscle paralysis. It is usually associated with

gene mutations that are responsible for encoding components of ion channel proteins contained in the

skeletal muscle membrane that mediate the resting and action potential required to initiate muscle

movement. The more commonly affected channels in primary periodic paralysis are the trans membrane

sodium, calcium, and potassium voltage-gated ion channels.7

Hypokalemic Periodic Paralysis (HPP) is a type of periodic paralysis that is characterized by paralytic

episodes caused by a drop in serum potassium <2.5-3.5 mEq/L or mmol/L.8 It is the most common type of

primary periodic paralysis with a prevalence of 1:100,000, and a has a reduced penetrance to women.9

Mutations involve the gene for calcium channel CACNA1S (60%) and SCN4A (20%) in the 1q31-32 or

17q23-25 chromosome.8,10 The disease presents similarly for both channelopathies and the common

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cause for weakness in HPP is failure to maintain resting membrane potential in a low potassium

environment which results from anomalous gating pore current. There is depolarization of the

sarcolemma that causes inactivation of the sodium channel which reduces muscle fiber excitability.10

Episodic attacks occur spontaneously or are usually triggered by stress, infections, prolonged rest after

exercise, or a carbohydrate-rich meal.9

Figure3. Gene mutations of HPP in Sodium and Calcium gated channels

HPP is confirmed by genetic testing and is the gold standard for diagnosis.5 It is recommended as the

first step for patient who are highly suspected for the disease. For patient who meet the clinical criteria,

genetic testing is 60-70% positive. For the 30% who tested negative, the diagnosis can be made through

clinical presentation and serum potassium levels during attacks. If still in doubt of the diagnosis, further

examination should be done to rule out neurologic causes of paralysis and a secondary cause for

decreased serum potassium levels.8

Table2. Supportive diagnostic criteria for HPP

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 Management of HPP include an accurate diagnosis, potassium supplementation for acute attacks,

prophylaxis, and avoidance of triggers. In an acute attack, the mainstay of treatment is potassium chloride,

best given at 0.5-1.0 meq/kg via oral route and should not exceed 100mEqs a day in the absence of an

acute attack. Intravenous route may be given if the hypokalemia causes an arrhythmia or airway

compromise. Mannitol is the solvent of choice, and only 10mEqs/hr should be given at a time. Diuretic

are not helpful during acute attacks, but may be used as maintenance therapy for prophylaxis.

Acetazolamide is the first line drug used at 125-1000mg a day in divided doses. A more potent alternative

is Dichlorphenamide given at one fifth the dose of acetazolamide. Potassium-sparing diuretic such as

spironolactone may also be given if unable to tolerate first-line maintenance treatments.8

SPINAL DURAL ARTERIOVENOUS FISTULA

SDAVF is slow and progressive. It initially presents as tingling pain, weakness, gait disturbances, and

diffuse or patchy sensory loss. Neurologic deficits progress and worsen over time, however, some are

relieved by rest. It is thought to be an acquired disease, occurring commonly n middle-aged individuals,

with male predilection.2

It starts with a feeding artery from a radiculopial artery or a dural branch of a radiculopial artery

entering an intervertebral or radicular vein, forming a SDAVF within the dorsal surface of the dural root

sleeve in the intervertebral foramen. The artery arterializes the intervertebral vein, causing an increase in

venous pressure that destroys the arteriovenous gradiant that leads to tortuosity of the radial veins

(intramedullary) and subsequent wall thickening. Edema of the spinal cord and progressive myelopathy is

caused by the increase in venous pressure and decreased tissue perfusion caused by stagnation. The lower

thoracic and lumbar spinal cord is most vulnerable due to fewer and smaller calibre radicular veins.3

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 Figure2. SDAVF at the thoracic area

The gold standard imaging for the diagnosis of SDAVF is spinal catheter angiography. On T2-

weighted images, the most striking feature of SDAVF is a serpentine and dilated intervertebral vein or

engorged perimedullary venous plexus as flow voids.3

Early reatment is essential in SDAVF since spontaneous closure is extremely rare and the disease

can progress, leading to irreversible damages to the spinal cord. Interventions include endovascular

embolization and surgical ligation. Embolization is less invasive, however, success rate of surgery is higher,

98% successful, compared to a 46% success rate for embolization. After treatment, a repeat angiography

is recommended after 2-3 months since recanalization may occur. No clinical improvement should prompt

suspicion for a residual fistulas2

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Figure3. MRI Angiogram of SDAVF (T5 intercoastal arteriogram at early phase demonstrates that artery of Adamkiewicz (white
arrow) ascends first then joins anterior spinal artery after characteristic hairpin turn (hollow arrows). Simultaneous appearance
of serpentine and tortuous perimedullary venous plexus (black arrows) implies common origin with artery of Adamkiewicz)

V. CONCLUSION

Spinal dural arteriovenous fistula is and often underdiagnosed disease due to nonspecific symptoms

that may be interpreted as other more common disease entities. It is treatable if diagnosed early, but may

lead to significant morbidity and handicap due to irreversible damages to the spinal cord if left alone. A

spinal angiograph by a specialist is needed for highly suspicious cases to be able to diagnose the disease

earlier, which will lead to significantly better outcomes. Surgical intervention by prompt endovascular

embolization or surgical ligation must be performed. It is highly important to be able to identify this

disease in its early stages since earlier diagnosis improves patient outcomes.

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