Van Der Knaap Leukoencephalopathy MRI

A 3 year old female, larger head relative to rest of the body.

Product of non consanguineous marriage. 

Clinical and neurological examination shows delayed milestones, walking imbalance. 

History of similar illness in elder sister. 

MRI study of brain shows:
Diffuses cerebral white matter involvement. Early involvement of sub cortical white matter. Sub cortical white matter cysts iso intense to Csf representing white matter paucity in temporal regions.
Basal ganglia and internal capsules spared.
Cerebral cortical atrophy.
Minimal involvement of Cerebellar white matter.

Impression:
Imaging findings of bilateral diffuse white matter disease, involvement sub cortical white matter with cysts, sparing basal ganglia and internal capsules with Macrocephaly clinically goes in favour of Van der Knaap disease.

Vander Knaap Leukoencephalopathy

Abbreviations and Syn: 
1. MLC: Megaloencephalic leukoencephalopathy with subcortical cysts, formerly known as Vacuolating megaloencephalic leukoencephalopathy with benign, slowly progressive course.
2. VWM: Leukoencephalopathy with Vanishing white matter (WM), Alternatively called CACH (Childhood ataxia central hypomyelination)
3. WML: White matter disease with lactate.
4. H-ABC: Hypomyelination with atrophy of the basal ganglia (BG) and cerebellum.

Imaging findings and diagnostic clues: 
MLC:
Swollen WM involvement is diffuse, includes subcortical U-fibers.
Subcortical cysts makred in anterior temporal and fronto parietal white matter.
Spares internal capsules, BG, thalami
Cerebellar involvement subtle.
VWM:
WM replaced by CSF signal, involvement is diffuse WM, includes subcortical U-fibers.
BG and thalami not involved.
Trackt-like ventral trigeminothalamic and central tegmental tract demyelination in brain stem
Cerebellar WM involved.
WML:
Diffuse periventricular, deep cerebral WM.
Spared subcortical U-fibers.
Posterior corpus callosum and posterior limb of internal capsule involved.
In Brainstem cerebral Peduncles, pyramidal tracts, medial lemniscus, intraparenchymal trajectories of trigeminal nerves, anterior spinocerebellar tracts involved.
Cerebellar WM involved later, but then notably abnormal.
Spinal involvement an important feature. In spine dorsal columns and lateral corticospinal tracts involvement is typical.
H-ABC:
Atrophy of BG and cerebellum.
Diffuse hypomyelination of cerebral WM.
Subcortical U-fibers involved.

CT
In all varieties involved WM show reduced attenuation. No contrast-enhancement.
MRI
In all involved WM show decreased signal on Tl WI and increased signal on T2WI
In MLC: Anterotemporal and frontoparietal subcortical cysts approximate CSF signal.
In VWM: Involved WM approximates CSF signal.
DWI: both MLC and WML on DTI shows decreased anisotropy and increased ADC values
No contrast-enhancement on post contrast study.
On MR spectroscopy in MLC all metabolites decreased in cystic regions with reduced NAA in
WM, +/- lactate. In VWM: All metabolites of affected WM disappear as the WM disappears; +/-lactate , glucose signals. In WML: Positive lactate peak; normal to mildly increased Cho,
reduced NAA, increased myo-inositol. In H-ABC: Increased Myo-inositol and creatine (gliosis) in WM;reduced frontal NAA, but otherwise NAA relatively normal

Differential Diagnosis: 

DDs of macrocephaly with   diffuse leukoencephalopathy is limited includes Canavan disease, Alexander disease, infantile-onset GM2 gangliosidosis and laminin alpha-2 (merosin) deficiency.

Laminin alpha 2 deficiency: The white matter disease in laminin alpha-2 deficiency most closely resembles that observed in MLC; however, the typical subcortical cysts of van der Knaap are lacking. Individuals with laminin alpha-2 deficiency have prominent weakness and hypotonia, not seen with MLC - van der Knaap. Molecular genetic testing will be confirmative.
Canavan disease: Typically shows involvement of the thalamus and globus pallidus with relative sparing of Putamen and caudate nucleus. The globus pallidus and thalamus are not involved in MLC. The white matter may be cystic in Canavan disease, but the typical subcortical cysts seen in MLC are lacking. Confrmation of Canavan disease possible by demonstration of very high concentration of NAA in the urine and/or molecular genetic testing of ASPA.
Alexander disease: Megalencephaly and leukoencephalopathy with frontal predominance on MRI is typical with contrast enhancement of particular brain structures  not a feature of MLC. Cystic degeneration may occur in Alexander disease, but the location of the cysts is frontal. Alexander disease can be confirmed by molecular genetic testing of GFAP.
Infantile GM2 gangliosidosis: MRI characterized by prominent involvement of the basal ganglia and thalami in addition to the white matter abnormalities. Demonstration of assaying hexosaminidase A and B in serum, leukocytes, or cultured skin fibroblast will be confirmtative.

General Features: None have systemic or other organ involvement

Genetics: 
MLC: Autosomal recessive; gene localized on chr22q(tel); 26 different mutations of MLCI gene. Encodes putative CNS membrane transporter
VWM: Recessive inheritance; gene on 3q27,mutations in genes that encode eIF2B subunits: EIF2Bl-S.
WML: Autosomal recessive inheritance likely.
H-ABC: Unknown, 7 cases in literature (no sibling pairs, so inheritance unknown)

Etiology: 
All are inborn genetic errors

Epidemiology
All are extremely rare
MLC and VWM rare, but carrier rate is high in some communities with high levels consanguinity.
Common MLC mutations in specific Indian community (Agarwal), Libyan Jewish, and Turkish populations due to founder effect.
Common VWM mutations in certain regions of Netherlands.

Age
MLC: Macrocephaly before the age of 1year
VWM: Young children (slower progression of older onset of symptoms)
WML: Older children, adolescents, young adults
H-ABC: 1-20 years.

Clinical Presentation
Most common signs/symptoms
MLC: Macrocephaly. Delayed onset slow motor deterioration. Slower cognitive decline.Cerebellar ataxia and pyramidal tract involvement, motor deterioration, seizures.
VWM: Episodes of major deterioration and coma following infection or minor head trauma. Relatively preserved cognition.
WML: Slowly progressive pyramidal, cerebellar and dorsal column dysfunction. Spasticity and ataxia. preserved cognitionr
H-ABC: Progressive extrapyramidal symptom like ataxia.

Management

Establish the extent of disease in an individual diagnosed with megalencephalic leukoencephalopathy with subcortical cysts (MLC) by
• Neurologic examination
• Brain MRI
• Physical therapy/occupational therapy assessment
• Assessment of cognitive dysfunction (neuropsychological testing)

Supportive therapy includes the following:
• Antiepileptic drugs (AED) if epileptic seizures are present
• Physical therapy to improve motor function
• Special education
• Speech therapy as needed

Prevention of Secondary Complications from minor head trauma.
Evaluation of Relatives at Risk with Genetic Counseling.

Reference : Diagnostic Imaging Osborn.

Similar case of Van Der Knaap Leukoencephalopathy Click here

Superficial Siderosis MRI Brain

A known case of Sellar Supra sellar mass with right para sellar component causing encasement of right ICA on MRI. Here are his Axial T2*GRE images. 

Axial T2 *GRE images of brain reveals low signal intensity hemosiderin staining along tentorium, sylvian fissures and hemispheric cortical sulci suggestive of Superficial siderosis, not at all obvious on any other parenchymal sequences implies to highest sensitivity of GRE to blood degradation product.

Superficial Siderosis

A rare condition characterised by abnormal hemosiderin staining of sub arachonid space, may be diffuse or focal, commonly overlying cerebral and cerebellar convexity, basal cisterns, ventral surface of brain stem on T2*GRE, results from excessive and repetitive subarachonid bleed.
An associated staining along cranial nerves particularly i, ii and viii CNs.
May see an associated atrophy of cerebellar hemispheres and vermis, lepto meningeal thickening with enhancement.
CT usually normal may show faint hyperdense layering.
Differential diagnosis is none, it has a pathognomonic appearace on T2*GRE.

Superficial siderosis is not a final diagnosis but an important finding indicating a remote or recurrent intra cranial bleed in subarachnoid space. Further imaging evaluation should be directed towards source of bleeding like MR Angiography to rule out aneurysm or any other vascular malformation.
The issue is cause of bleed. In ~25% cases cause in not found.

Clinically common symptoms are ataxia, hearing loss, anosmia, dementia; in long standing cases adjacent brain parenchymal atrophy ensues with altered cognition.
Treatment directed towards finding and removing cause of bleeding. Iron chelating agents.

Reference: Teaching atlas of brain imaging: By Nancy J. Fischbein, William P. Dillon, A. James Barkovich : Dural and lepto meningeal processes, Case 65, page  231.

To see other cases of Superficial Siderosis :
Case 1: Click here
Case 2: Click here

Chronic Hypertensive Encephalopathy MRI

A 45 yo male with known long standing hypertension.

Now admitted with recent right sided weakness with altered cognition.

This MRI study of Brain shows:
Confluent bilateral fronto parietal peri ventricular white matter T2 hyper intensity.
Foci of intra parenchymal bleed in bilateral basal ganglia, micro bleeds in thalami and Pons on GRE.

Imaging diagnosis : Chronic Hypertensive Encephalopathy.


CHRONIC HYPERTENSIVE ENCEPHALOPATHY

Brain parenchymal changes due to long-standing effects of untreated or poorly treated systemic hypertension (HTN)

CHE causes vascular dementia.
CHE can be associated with Subcortical arterial and arteriolar leukoencephalopathy, Leukoaraiosis, Binswanger disease.

Imaging wise characterized by
1. Chronic lacunes and lacunar infarcts.
2. Parenchymal hemorrhages and microbleeds.
3. Diffuse white matter lesions.

Chronic lacunes and lacunar infarcts are due to small vessel occlusion and microbleeds. Sites of lacunae in order of decreasing frequency is lenticular nuclei, pons, thalamus, internal capsule and caudate nuclei.

Parenchymal hemorrhages and microbleeds as multiple hypointense foci on T2*GRE images.
T2* GRE has superior sensitivity in detecting old Hemorrhages.
Parenchymal hemorrhages are common especially in basal ganglia, thalami and Pons.

Diffuse white matter (WM) lesions are marked in fronto parietal peri ventricular white matter as confluent ill defined hypodensity on CT / hyper intensity on MRI T2 and FLAIR.

DW images may show recent lacunar foci with restricted diffusion.

DDs
Amyloid angiopathy
• Second most frequent cause of cerebral hemorrhage (next to atheromatosis), especially recurrent.
• Hemorrhages are most common in frontal and parietal lobes followed by deep central gray nuclei, corpus callosum, cerebellum and brainstem.
• Amyloid deposition within small and medium arteries of cerebral leptomeninges and cerebral cortex.
• Amyloidosis may also cause
Transient ischemic attacks (TIA), cerebral infarcts.
Binswanger type leukoencephalopathy.
Symptoms resembling cerebral pseudotumor.

CADASlL
• Nonarteriosclerotic, amyloid-negative hereditary angiopathy primarily affecting leptomeningeal and long perforating arteries of brain.
• Characteristic subcortical lacunar infarcts and leukoencephalopathy in young adults.
• Lesions found predominantly within centrum semiovale, thalamus, BG, and pons.
• Anterior temporal pole and external capsule lesions have high sensitivity and specificity for CADASIL.

Dementias
• Alzheimer dementia
Parietal and temporal cortical atrophy
Volume loss in hippocampi, entorhinal cortex
Often co-existing microvascular disease, WM hyperintensities
• Multi-infarct dementia
o Hyperintense lesions on T2WI and focal atrophy suggestive of chronic infarcts.

Pseudoxanthoma elasticum
• Subcortical leukoencephalopathy
• Dementia, multiple strokes with hypertension

Antiphospholipid antibody syndrome
• Early stroke, recurrent arterial and venous thromboses
• Spontaneous fetal loss, thrombocytopenia
• Infarcts of various sizes and T2 hyperintense WM foci.

Neuropsychiatric systemic lupus
erythematosus (NPSLE)
• Most common: Small multifocal WM lesions
• Cortical atrophy, ventricular dilation
• Periventricular and diffuse WM changes
• Infarcts, hemorrhage, multifocal gray matter lesions.

Other vasculitides
• Primary angiitis of CNS, granulomatous angiitis
• Polyarteritis nodosa, Behcet disease
• Syphilis, Sjogren syndrome

Pathology 
- Chronic HTN  irreversible structural changes in small arterial vessels of cerebral parenchyma leading to WM changes and lacunar infarctions.
- Elevated blood pressure (BP)  hyalinosis and sclerosis in walls of small intraparenchymal arterioles predisposition to thrombotic occlusion.

Gross Pathologic and microscopic features
- Demyelination of periventricular and central WM.
- Multiple lacunae and infarctions.
- Parenchymal hemorrhage.

Clinical Presentation
- Most common signs/symptoms : Memory loss (various features of dementia), Motor disorders, pseudobulbar syndrome.
- Stepwise or gradual progression of mental deterioration, acute strokes, lacunar syndrome, subacute onset of focal, pseudobulbar and extrapyramidal signs and seizures.

Age and Gender 
- Incidence increases with age.
- HTN more prevalent in men than women.

Treatment
- Long-term control of Blood pressure.

Brachial plexus injury MRI

A 20 Yrs Male. 

Clinical Details  : About 8 days ago sustained a fall off a bike. Thereafter has noted weakness of the right arm. No past history.

Examination shows weakness of supraspinatus, infraspinatus, rhomboids, deltoid, biceps, wrist extension. Mild weakness of wrist flexion. Normal triceps. Sensations are impaired especially from C5 to C6.

MRI study of cervical spine shows mild loss of normal cervical lordosis.
Spinal cord and exiting nerve roots normal.
MRI FOR BRACHIAL PELXUS performed with Coronal STIR, Cor FIESTA, Axial T2, STIR and MR Myelography.

This axial T2w MRI study of Brachial plexus shows:
T2 hyper intensity of fluid between right side anterior and middle scalene muscles attributed to odema / hematoma, the region corresponds to the course of Brachial plexus. Injury to right side Brachial plexus possible here.

Empty Sella MRI

MRI Brain

This mid sag T2w section shows:

Roomy hypophyseal fossa occupied by Csf. 

Pituitary flat at the floor near posterior wall of sella with an abnormal height less than 2mm.

Congenitally Absent 6th CN on MRI in Duane's Retraction Syndrome

A 6 month old baby with congenital left side abduction deficit.

Clinical diagnosis: Duane's Retraction Syndrome.

MRI Brain performed for 6th CN with MRI Orbit.
Sequences planned are FSE T1W, FSE T2W, FLAIR, and DW images show no significant abnormality in Brain parenchyma and region of cavernous sinuses.
Axial and Coronal T1 T2 STIR for orbit show normal optic nerves and extra occular muscles.
On Axial FIESTAs for Cranial Nerves 6th CN not visualized on left side. Cisternal portion of Right side normal 6th CN nerve marked with arrow. Rest of the CNs normal, particularly facial and trigeminal nerves. Normal symmetric cisternal portions of bilateral occulomotor nerves.

Impression:
Cisternal portion of left side 6th CN not visualized - Congenitally absent.
Consider the diagnosis Duane's Retraction Syndrome (DRS) clinically.

NB: Characteristic diagnostic signs of DRS (congenital abduction deficit accompanied by retraction of the globe on attempted adduction) might not be manifested in early childhood or may be difficult to evaluate, a successful demonstration of absence of the abducens nerve on MRI strongly suggests DRS in children with abduction deficit - Reference: AJNR 2005 26: 702-705 MR Imaging in DRS, Jae Hyoung Kim.

Duane's Retraction Syndrome


Syn: Duane's syndrome (DS)
A rare, congenital disorder of eye movement characterized by the inability of the eye to abduct, to move outwards. The condition involves neural pathways associated with the sixth cranial nerve.
DRS was first described by Jakob Stilling in 1887 and Siegmund Türk in 1896 and subsequently named after Alexander Duane who discussed the disorder in more details in 1905. Other names for this condition include Eye Retraction Syndrome, Sausage Eye, Retraction Syndrome, Congenital retraction syndrome and Stilling-Turk-Duane Syndrome.

As described by Duane, the characteristic features of the syndrome are:
1. Limitation of abduction (outward movement) of the affected eye.
2. Less marked limitation of adduction (inward movement) of the same eye.
3. Retraction of the eyeball on adduction, associated narrowing of the palpebral fissure (eye closing)
4. Poor convergence.
5. A face turn to the side of the affected eye to compensate for the movement limitations of the eye(s) and to maintain binocular vision.
6. Eye is 45ﾟ to left or right, resulting in "correct movement", but wrong placing of eye. (i.e. when an unaffected eye looks to the right, the affected eye looks straight forward, and when the unaffected eye looks straight forward, the affected eye looks to the left)

DRS is a miswiring of the eye muscles, causing some eye muscles to contract when they are not not supposed to contract and other eye muscles not to contract when they are supposed to contract.
Alexandrakis G and Saunders state that in most cases, the abducens nucleus and nerve are absent or hypoplastic, the lateral rectus is innervated by inferior division of the oculomotor nerve. This misdirection of nerve or mis wiring results in opposing muscles being innervated by the same nerve at  the same time. Thus, on attempted abduction, stimulation of the lateral rectus via the oculomotor nerve will be accompanied by stimulation of the opposing medial rectus via the same nerve. Thus, co-contraction of the muscles takes place, limiting movement and resulting in retraction of the eye into the socket.

Most patients are diagnosed by the age of 10 years, more common in girls. Around 10–20% of cases are familial. Duane syndrome can be associated with extraocular problems (so-called "Duane's Plus"), including cervical spine abnormalities (Klippel-Feil syndrome), Goldenhar syndrome, autism, heterochromia, and thalidomide-induced embryopathy.

The majority of patients remain symptom free, able to maintain binocularity with only a slight face turn. Amblyopia is uncommon, if present, rarely dense.
Duane syndrome cannot be cured, as the "missing" cranial nerve cannot be replaced.
Surgical intervention recommended only when patient is unable to maintain binocularity or a cosmetically unsightly or uncomfortable head posture in order to maintain binocularity. The aims of surgery is to place the eye in a more central position. Again surgery is not needed during childhood and is appropriate later in life, as head position may change further presumably due to progressive muscle contracture.

Os Odontoideum MRI

An uncommon craniovertebral (CV) junction abnormality characterized by a separate ossicle superior to the dens.
Separation of the odontoid process from rest of the body of the axis was first described in a post mortem specimen In 1863.
Giacomini coined the term os odontoideum for this condition in 1886.

The entity is clinically important because a mobile or insufficient odontoid process renders the transverse ligament ineffective at restraining atlantoaxial motion.
Many cases detected incidentally, others are diagnosed when become symptomatic.

There is continuing controversy over its etiology. Initially, os odontoideum was thought to represent a congenital failure of fusion of the dens to the remainder of the axis. Now its clear that failure of the secondary ossification center of the dens to fuse with the base of the odontoid represents a separate entity known as persistent ossiculum terminale and the Os odontoideum actually represents a previous fracture of the odontoid synchondrosis before its closure at age 5-6 years. There is high incidence of Oo in Morquio syndrome, Multiple epiphyseal dysplasia, Down’s Syndrome.

Size/shape vary with smooth cortical borders (the differentiating point from fracture)
Types:
Orthotopic – In normal position at tip of dens.
Dystopic – Displaced towards base of occiput where it may fuse with clivus or anterior ring of C1.

Investigations:
Xray: Open-mouth, anterior-posterior, and flexion-extension lateral radiograph may demonstrate a Gap separating the OO and axis proper. An associated hypertrophy of anterior arch of C1
CT with sagittal CT reconstruction give more detail into the atlanto-axial junction
MRI to evaluate spinal cord for any compression.
Fluoroscopy to show instability

Differential Diagnosis include Persistent ossiculum terminale, True hypoplasia of odontoid peg, Neurocentral synchondrosis, Odontoid fracture nonunion.

Oo predisposes to increased risk of cranio-vertebral junction trauma.
Pt may present with acute neurological dysfunction. Torticollis, localized pain, neurovascular compromise signs.
If cord compression may require neurosurgery.

Conjoined Nerve Root MRI

MRI Lumbar spine

Axial T1w images at the level of L4-5 disc show asymmetrical appearance of thecal sac due to conjoined L5 and S1 nerve root on left side.
In first section, only right side L5 nerve root has emerged out. There is no corresponding L5 nerve root on left.
In second section an ovoid out pouching from thecal sac on left side due to combined exit of L5 and S1 nerve root. Same separate and single L5 nerve root in lateral recess on right.
In last section on left side both L5 and S1 nerve root seen intra spinally in lateral recess. The same separate L5 nerve root in right lateral recess. The right S1 nerve root is about to emerge seen as a small bulge from thecal sac on right side.


Conjoined nerve root

Syn: Composite nerve root sleeve.
A type of developmental anomaly involving nerve root.
The term conjoined nerve root actually refers to the roots of 2 adjacent segments, arising at the same level from the thecal sac, enveloped by a common root sleeve.
Nerve roots usually exit separately at expected neural foraminal levels. Occasionally both the nerve roots exit through the same usually the lower foramen.
It is the commonest nerve root developmental anomaly of the cauda equina.
Often unilateral.
Most common location is lumbar spine in that commonly involves L5 and S1 nerve root.
The incidence in cadaveric studies is about 8% and 6% in MRI study.

The nerve root anomaly itself does not cause symptoms.
Usually asymmptomatic.
Symptomatic patient present with radiculopathy. Conjoined nerve roots are more prone to compression by degenerative processes of disc or facetal joint.
It is important to know about this normal anatomical variation as it may be confused with disk herniations, possible with poor quality MR images. Axial slices should be contiguous over several segments. Typical signs include asymmetry of the anterolateral corners of the dural sac, excess extradural fat between the asymmetric dura and the nerve root, parallel course of the affected nerve roots at the disc level

MRI is the investigation of choice. Associated findings may be enlarged or asymmetric neural foramen or lateral recesses, hypoplastic or absent pedicle. Association mentioned with vertebral anomalies such as vertebral arch defects, spondylolisthesis, spina bifida, absence of the ipsilateral facet joints.

Natural history and prognosis is asymptomatic patients requires no treatment. Rare symptomatic patient with pain referable to conjoined nerve root may require surgery. Symptomatic undiagnosed cases of conjoined nerve root are one cause of failed back syndrome. 

Vertebral venous plexuses MRI

Axial section through the body of a thoracic vertebra, showing the intra osseous veins draining basivertebral vein in Y’ / ‘V’ shape configuration.
Basivertebral veins are tortuous vascular channels in the vertebral bodies, unite with the longitudinal prevertebral veins anteriorly and the anterior epidural venous plexus posteriorly. These intra osseous veins should not be mistaken for a compression fracture in cases of asymmetry.

Scheuermann's disease MRI

MRI Cervico Dorsal region spine sagittal T2w images show multiple and contiguous involvement of vertebral bodies in dorsal region.
Antero posterior elongation of vertebral bodies.
Associated Schmorl's nodes, end plate irregularity and disc space narrowing.
Reduced height with anterior wedging of D5, exaggerated kyphosis.
Findings are Classical of Scheuermann's disease.

Scheuermann's disease
A k a Scheuermann kyphosis.
A common condition resulting in kyphosis of the thoracic or thoracolumbar spine.
Low back pain in adolescents, the Schueurmann's disease must be considered.
A plain Xray film is sufficient for diagnosis.
Incidence : ~ 0.4 to 8% of the general population.
Strong hereditary predisposition present (Autosomal dominant).
Adolescent males.
M = F

The most common and classical form of Scheuermann's disease occurs in thoracic region.
The Lumbar variant of Scheuermann's occurs in lumbar or dorso lumbar region.

Imaging wise Diagnostic criteria for classical Schuermann's:
- Degree of kyphosis, for dorsal region should be more than 45 degree (normal 25 - 40 deg) and for dorso lumbar region more than 30 degree (normal 0 deg)
- Multiple and contigenous involvement of vertebral bodies, at least 3 adjacent vertebrae demonstrating wedging.
- Antero posterior elongation of vertebral bodies.
- Associated Schmorl's nodes.
- End plates irregularity which are normally flat.
- Disc space narrowing.

Lumbar Scheuermann's Disease

Type I or classic Lumbar Schuermann's shows hallmark wedging deformities of the vertebrae similar to Thoracic Scheuermann's kyphosis.
Type II or atypical Lumbar Schuermann's does not have a wedging deformity of the vertebrae. Instead the vertebrae maintain their normal squared shape. Severity of kyphosis is also mild. This variant is known as "acute traumatic intraosseous disc herniation." This is characterized by a history of a traumatic event – usually a fall – and includes a fracture of the bony endplate with disc material herniating into the bone.

Scheuermanns-disease-lumbar-variant

The true cause of Schuerman's disease is not known.
Proposed theories include mechanical compression during growth, acute disc injuries, hormonal variations, and genetic factors as the cause. None is proven.

Treatment is symptomatic.
Surgery for severe kyphosis.

References:
Ali RM, Green DW, Patel TC. Scheuermann's kyphosis. Curr. Opin. Pediatr. 1999;11 (1): 70-5.
Lowe TG. Scheuermann disease. J Bone Joint Surg Am. 1990;72 (6): 940-5.