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Question 7221

Topic: 6. Spine

A 5-year-old with Morquio syndrome (MPS IV) is scheduled for elective bilateral lower extremity osteotomies for severe genu valgum. Prior to intubation and anesthesia, which of the following is the most critical radiographic screening required?

. Anteroposterior pelvis for hip dysplasia
. Flexion-extension cervical spine radiographs
. Thoracolumbar spine radiographs for scoliosis
. Bilateral hand radiographs for carpal instability
. Chest radiograph for pulmonary hypertension

Correct Answer & Explanation

. Flexion-extension cervical spine radiographs


Explanation

Patients with Morquio syndrome have severe odontoid hypoplasia and ligamentous laxity, leading to atlantoaxial instability. Flexion-extension C-spine radiographs are mandatory prior to any procedure requiring intubation to prevent catastrophic spinal cord injury.

Question 7222

Topic: Cervical Spine

A 6-year-old girl with Morquio syndrome (MPS IV) presents with progressive weakness and clumsiness in her hands. Cervical spine flexion-extension radiographs demonstrate severe atlantoaxial instability. What is the primary anatomic cause of this instability in Morquio syndrome?

. Odontoid hypoplasia combined with ligamentous laxity
. Odontoid hypoplasia combined with severe ligamentous hypertrophy
. Congenital absence of the transverse ligament
. Os odontoideum with normal ligamentous tension
. Anterior wedging of the C2 vertebral body

Correct Answer & Explanation

. Odontoid hypoplasia combined with ligamentous laxity


Explanation

Atlantoaxial instability in Morquio syndrome (MPS IV) is driven by a combination of severe odontoid hypoplasia and profound ligamentous laxity. This places patients at high risk for fatal cervicomedullary compression if not addressed with surgical fusion.

Question 7223

Topic: Thoracolumbar Spine & Deformity

A patient with Hurler syndrome develops a severe thoracolumbar kyphosis (gibbus deformity). What is the primary radiographic abnormality of the vertebrae causing this deformity?

. Anteroinferior vertebral body beaking
. Central vertebral body scalloping
. Anterosuperior vertebral body beaking
. Complete failure of vertebral body segmentation
. Butterfly vertebrae formation

Correct Answer & Explanation

. Anteroinferior vertebral body beaking


Explanation

In Hurler syndrome (MPS I), the vertebrae typically exhibit anteroinferior beaking, which leads to anterior wedging and progressive thoracolumbar kyphosis. In contrast, Morquio syndrome (MPS IV) classically features central anterior beaking.

Question 7224

Topic: 6. Spine

A 6-year-old child with normal intelligence presents with short stature, severe genu valgum, and a barrel chest. Radiographs reveal platyspondyly with central anterior vertebral beaking.

Which of the following is the most critical screening evaluation prior to any surgical intervention?

. Echocardiography for aortic root dilation
. Flexion-extension cervical spine radiographs
. Pulmonary function testing for restrictive lung disease
. Renal ultrasound for cystic changes
. Electroencephalography (EEG)

Correct Answer & Explanation

. Flexion-extension cervical spine radiographs


Explanation

The clinical presentation and central vertebral beaking are classic for Morquio syndrome (MPS IV). These patients are at high risk for fatal atlantoaxial instability due to odontoid hypoplasia, necessitating cervical spine screening prior to anesthesia.

Question 7225

Topic: Cervical Spine

A 6-year-old child presents with severe disproportionate short-trunk dwarfism, knock-knees, and normal intelligence. Radiographs reveal platyspondyly and odontoid hypoplasia. Laboratory analysis confirms a diagnosis of Morquio syndrome (MPS IV). Which of the following is the deficient enzyme in Type A of this disorder?

. Alpha-L-iduronidase
. Galactosamine-6-sulfatase
. Heparan N-sulfatase
. Arylsulfatase B
. Iduronate-2-sulfatase

Correct Answer & Explanation

. Galactosamine-6-sulfatase


Explanation

Morquio syndrome Type A is an autosomal recessive mucopolysaccharidosis caused by a deficiency in galactosamine-6-sulfatase. Unlike most other MPS types, intelligence is preserved, but severe skeletal deformities and atlantoaxial instability are hallmarks.

Question 7226

Topic: 6. Spine

A 1-year-old infant presents with corneal clouding, hepatosplenomegaly, mental retardation, and a noticeable gibbus deformity of the thoracolumbar spine. What is the deficient enzyme responsible for this clinical presentation?

. Alpha-L-iduronidase
. Iduronate-2-sulfatase
. Arylsulfatase B
. Galactose-6-sulfatase
. Beta-glucuronidase

Correct Answer & Explanation

. Alpha-L-iduronidase


Explanation

This presentation is classic for Hurler syndrome (MPS I), an autosomal recessive disorder. It is caused by a deficiency in alpha-L-iduronidase, leading to the accumulation of dermatan and heparan sulfate.

Question 7227

Topic: 6. Spine

A 5-year-old child with a known deficiency of galactosamine-6-sulfatase requires general anesthesia for a hernia repair. Which pre-operative orthopedic evaluation is absolutely critical before intubation?

. Pulmonary function testing
. Flexion-extension cervical spine radiographs
. Scoliosis screening series
. Echocardiogram
. Bilateral hip radiographs

Correct Answer & Explanation

. Flexion-extension cervical spine radiographs


Explanation

Patients with Morquio syndrome (MPS IV) frequently have odontoid hypoplasia resulting in severe atlantoaxial instability. Flexion-extension cervical spine radiographs are mandatory before any procedure requiring intubation to prevent spinal cord injury.

Question 7228

Topic: 6. Spine

A 6-year-old boy presents with short trunk dwarfism, normal intelligence, and severe genu valgum. Spine radiographs demonstrate universal platyspondyly with central anterior vertebral beaking. He is diagnosed with Mucopolysaccharidosis Type IV (Morquio syndrome). Which specific enzyme is deficient in this patient?

. Alpha-L-iduronidase
. Iduronate-2-sulfatase
. Galactosamine-6-sulfatase
. Heparan N-sulfatase
. Arylsulfatase B

Correct Answer & Explanation

. Galactosamine-6-sulfatase


Explanation

Morquio syndrome (MPS IV) is caused by a deficiency in Galactosamine-6-sulfatase (Type A) or Beta-galactosidase (Type B), leading to keratan sulfate accumulation. It uniquely features normal intelligence and central anterior vertebral beaking.

Question 7229

Topic: 6. Spine

A 2-year-old girl is evaluated for coarse facial features, corneal clouding, developmental delay, and severe kyphosis. Spine radiographs show anterior-inferior vertebral body beaking.

The accumulation of which glycosaminoglycans is primarily responsible for her clinical presentation?

. Keratan sulfate and Chondroitin 6-sulfate
. Heparan sulfate and Dermatan sulfate
. Dermatan sulfate only
. Heparan sulfate only
. Keratan sulfate and Dermatan sulfate

Correct Answer & Explanation

. Heparan sulfate and Dermatan sulfate


Explanation

The patient has Hurler syndrome (MPS I), caused by alpha-L-iduronidase deficiency. This leads to the toxic accumulation of heparan sulfate and dermatan sulfate, resulting in severe skeletal dysplasia, corneal clouding, and mental retardation.

Question 7230

Topic: 6. Spine

An 8-year-old boy with known Morquio syndrome (MPS IV) is scheduled for bilateral lower extremity corrective osteotomies to address severe genu valgum. Before general anesthesia is administered, which of the following is the most critical pre-operative orthopedic evaluation?

. Pre-operative echocardiogram to assess for valvular disease
. Pulmonary function tests to rule out restrictive lung disease
. Flexion-extension radiographs of the cervical spine
. MRI of the lumbar spine to check for tethered cord
. DEXA scan to evaluate bone mineral density

Correct Answer & Explanation

. Flexion-extension radiographs of the cervical spine


Explanation

Patients with Morquio syndrome (MPS IV) classically suffer from odontoid hypoplasia and ligamentous laxity, making them highly susceptible to atlantoaxial instability. Flexion-extension cervical radiographs (or MRI) are critical prior to intubation to prevent catastrophic spinal cord injury.

Question 7231

Topic: 6. Spine

A 5-year-old boy with a known iduronate-2-sulfatase deficiency (Hunter syndrome) undergoes a comprehensive skeletal survey. Which of the following radiographic findings is most characteristic of the spinal deformities seen in this patient?

. Anterior-inferior vertebral body beaking
. Central anterior vertebral body beaking
. Universal platyspondyly with coronal clefts
. Rugger jersey spine appearance
. Flowing syndesmophytes creating a bamboo spine

Correct Answer & Explanation

. Central anterior vertebral body beaking


Explanation

Hunter syndrome (MPS II) is characterized radiographically by anterior-inferior vertebral body beaking, similar to Hurler syndrome (MPS I). Central anterior beaking is the hallmark of Morquio syndrome (MPS IV).

Question 7232

Topic: Cervical Spine

A 6-year-old girl presents with short-trunk dwarfism, severe genu valgum, and generalized joint hyperlaxity. She has normal intelligence but exhibits corneal clouding. Cervical spine radiographs reveal odontoid hypoplasia with significant atlantoaxial instability.

Which of the following glycosaminoglycans abnormally accumulates in this patient's specific syndrome?

. Heparan sulfate and Dermatan sulfate
. Heparan sulfate only
. Keratan sulfate
. Chondroitin-6-sulfate
. Hyaluronic acid

Correct Answer & Explanation

. Keratan sulfate


Explanation

The patient's presentation of short-trunk dwarfism, normal intelligence, joint hyperlaxity, and odontoid hypoplasia is classic for Morquio syndrome (Mucopolysaccharidosis Type IV). This condition is caused by a deficiency in galactosamine-6-sulfatase or beta-galactosidase, leading to the specific accumulation of keratan sulfate.

Question 7233

Topic: 6. Spine

A 6-year-old child presents with severe genu valgum, prominent chest deformity, and normal intelligence. Radiographs demonstrate central anterior beaking of the vertebral bodies and platyspondyly. Which of the following is the most critical orthopedic screening required for this patient to prevent catastrophic neurological injury?

. Regular screening for developmental dysplasia of the hip
. Cervical spine flexion-extension radiographs
. Serial long bone length measurements
. Scoliometry every 6 months
. DXA scan for early-onset osteoporosis

Correct Answer & Explanation

. Cervical spine flexion-extension radiographs


Explanation

This patient has Morquio syndrome (MPS IV), characterized by central vertebral beaking, normal intelligence, and severe skeletal dysplasia. Odontoid hypoplasia and atlantoaxial instability are hallmarks, necessitating careful cervical spine screening to prevent myelopathy.

Question 7234

Topic: 6. Spine

A 3-year-old girl is diagnosed with a mucopolysaccharidosis. Radiographs of her thoracolumbar spine demonstrate severe kyphosis (gibbus deformity). Which of the following radiographic features of the spine best distinguishes Hurler syndrome from Morquio syndrome?

. Location of the vertebral body anterior beak
. Presence of odontoid hypoplasia
. Degree of platyspondyly
. Widening of the interpedicular distances
. Presence of posterior element fusion

Correct Answer & Explanation

. Location of the vertebral body anterior beak


Explanation

In Hurler syndrome (MPS I), the anterior vertebral beak is typically located at the anteroinferior aspect of the vertebral body. In contrast, Morquio syndrome (MPS IV) classically presents with a central anterior vertebral beak.

Question 7235

Topic: 6. Spine

A 4-year-old girl with achondroplasia presents to the clinic with progressive clumsiness, bilateral lower extremity hyperreflexia, and occasional apneic episodes during sleep. Radiographs confirm normal sagittal and coronal alignment of the thoracolumbar spine. What is the most likely cause of her progressive neurological symptoms?

. Odontoid hypoplasia with severe atlantoaxial instability
. Foramen magnum stenosis causing cervicomedullary compression
. Severe central canal stenosis of the lumbar spine
. Tethered cord syndrome secondary to dysraphism
. Cervical syringomyelia

Correct Answer & Explanation

. Foramen magnum stenosis causing cervicomedullary compression


Explanation

In young children with achondroplasia, abnormal endochondral ossification leads to poor development of the skull base, frequently causing foramen magnum stenosis. This can lead to cervicomedullary compression, presenting with hyperreflexia, sleep apnea, central hypotonia, and potentially sudden death if untreated.

Question 7236

Topic: 6. Spine

A 45-year-old man presents with recurrent right-sided sciatica 6 months after a right L4-L5 microdiscectomy. He had initial relief of symptoms, but the pain returned 4 weeks ago. To differentiate between epidural fibrosis (scar tissue) and a recurrent disk herniation, an MRI with gadolinium contrast is ordered. Which of the following best describes the expected MRI findings?

. Epidural fibrosis will enhance with gadolinium, whereas a recurrent disk herniation will not enhance.
. A recurrent disk herniation will enhance with gadolinium, whereas epidural fibrosis will not enhance.
. Both epidural fibrosis and recurrent disk herniation will enhance equally.
. Neither epidural fibrosis nor recurrent disk herniation will enhance.
. Gadolinium enhancement is only useful for diagnosing infectious discitis, not recurrent herniation.

Correct Answer & Explanation

. Epidural fibrosis will enhance with gadolinium, whereas a recurrent disk herniation will not enhance.


Explanation

Correct Answer: Epidural fibrosis will enhance with gadolinium, whereas a recurrent disk herniation will not enhance.Differentiating between a recurrent disk herniation and epidural fibrosis (scar tissue) in a patient with recurrent radiculopathy after a microdiscectomy is a common clinical challenge. MRI with intravenous gadolinium contrast is the imaging modality of choice. Epidural fibrosis is highly vascularized and will enhance with gadolinium. In contrast, a recurrent disk fragment is avascular and will not enhance centrally, although there may be a thin rim of peripheral enhancement due to surrounding inflammatory granulation tissue.

Question 7237

Topic: 6. Spine

A 45-year-old man presents with recurrent right-sided sciatica 2 years after an L4-L5 microdiscectomy. An MRI with gadolinium contrast is ordered to evaluate his symptoms. What is the expected enhancement pattern that differentiates a recurrent disc herniation from epidural scar tissue?

. Both scar tissue and recurrent disc herniation enhance uniformly.
. Neither scar tissue nor recurrent disc herniation enhances.
. Scar tissue enhances uniformly, while a recurrent disc herniation shows only peripheral enhancement.
. Recurrent disc herniation enhances uniformly, while scar tissue shows no enhancement.
. Scar tissue enhances only on T1-weighted images without contrast, while disc enhances with contrast.

Correct Answer & Explanation

. Scar tissue enhances uniformly, while a recurrent disc herniation shows only peripheral enhancement.


Explanation

Correct Answer: CMRI with gadolinium contrast is the gold standard for differentiating epidural fibrosis (scar tissue) from a recurrent disc herniation in a patient with prior spine surgery. Epidural scar tissue is highly vascularized and will enhance uniformly after gadolinium administration. In contrast, a recurrent disc fragment is avascular and will not enhance centrally, although it may exhibit a thin rim of peripheral enhancement due to the surrounding inflammatory response.

Question 7238

Topic: 6. Spine

A 45-year-old man presents with recurrent right-sided L5 radicular leg pain 6 months after an L4-L5 microdiscectomy. To differentiate between a recurrent disc herniation and postoperative epidural fibrosis, an MRI with gadolinium contrast is ordered. Which of the following MRI findings is most characteristic of a recurrent disc herniation?

. A mass in the anterior epidural space that homogeneously enhances with gadolinium
. A mass in the anterior epidural space with peripheral enhancement and a non-enhancing center
. Diffuse enhancement of the thecal sac and nerve roots
. A non-enhancing mass that is hyperintense on T1-weighted images
. A mass that is hypointense on T1 and hyperintense on T2 with homogeneous enhancement

Correct Answer & Explanation

. A mass in the anterior epidural space with peripheral enhancement and a non-enhancing center


Explanation

Correct Answer: BDifferentiating recurrent disc herniation from epidural fibrosis (scar tissue) is a common clinical challenge following lumbar discectomy. MRI with intravenous gadolinium contrast is the imaging modality of choice. Epidural fibrosis is vascularized tissue and will therefore enhance homogeneously with gadolinium. In contrast, a recurrent disc fragment is avascular and will not enhance centrally. However, the disc fragment is often surrounded by vascularized granulation tissue or scar, leading to a characteristic pattern of peripheral enhancement with a dark, non-enhancing center. Therefore, a mass with peripheral enhancement and a non-enhancing center is diagnostic of a recurrent disc herniation.

Question 7239

Topic: 6. Spine

A 45-year-old man presents with recurrent right-sided sciatica 6 months after a right L4-L5 microdiscectomy. He had complete relief of his leg pain immediately postoperatively, but the pain returned gradually over the past month. Which of the following imaging modalities is the most specific for differentiating a recurrent disc herniation from postoperative epidural fibrosis?

. Non-contrast MRI of the lumbar spine
. MRI of the lumbar spine with intravenous gadolinium
. Computed tomography (CT) myelography
. Electromyography (EMG) and nerve conduction studies
. Plain radiographs with flexion-extension views

Correct Answer & Explanation

. MRI of the lumbar spine with intravenous gadolinium


Explanation

Correct Answer: BDifferentiating a recurrent disc herniation from postoperative epidural fibrosis (scar tissue) is critical in a patient with recurrent radiculopathy after a discectomy. MRI with intravenous gadolinium contrast is the imaging modality of choice. Epidural fibrosis is highly vascularized and will enhance uniformly after gadolinium administration. In contrast, a recurrent disc fragment is avascular and will not enhance centrally, although it may demonstrate a thin rim of enhancement from surrounding inflammatory scar tissue. Non-contrast MRI cannot reliably distinguish between the two entities, as both can appear as intermediate signal intensity on T1 and T2-weighted images.

Question 7240

Topic: 6. Spine

A 45-year-old man presents with recurrent right-sided L5 radiculopathy 18 months after an L4-L5 microdiscectomy. To differentiate between a recurrent disc herniation and epidural fibrosis, an MRI with gadolinium is ordered. Which of the following MRI findings is most indicative of a recurrent disc herniation rather than epidural fibrosis?

. Enhancement of the central core of the mass on T1-weighted images
. Peripheral enhancement of the mass with a non-enhancing central core on T1-weighted images
. Homogeneous enhancement of the entire mass on T2-weighted images
. High signal intensity of the mass on T1-weighted images without contrast
. Complete absence of peripheral enhancement on T1-weighted images

Correct Answer & Explanation

. Peripheral enhancement of the mass with a non-enhancing central core on T1-weighted images


Explanation

Correct Answer: BDifferentiating between a recurrent disc herniation and epidural fibrosis (scar tissue) is critical in a patient presenting with recurrent radiculopathy after a prior discectomy. MRI with intravenous gadolinium contrast is the imaging modality of choice. Epidural fibrosis is vascularized tissue and will demonstrate homogeneous enhancement following gadolinium administration. In contrast, a recurrent disc fragment is avascular and will not enhance centrally. However, the inflammatory granulation tissue surrounding the recurrent disc fragment will enhance, leading to a characteristic peripheral enhancement with a non-enhancing central core on T1-weighted images.