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10.1 · Diabetic Hand and Diabetic Foot
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10
Spectral Flow Abnormalities on Doppler Scan
of the Lower Limbs
5 e normal arterial spectrum is triphasic, with peak
systolic velocity (PSV) ~120cm/s.
5 0–50 % stenosis: shows triphasic or biphasic arterial
spectrum (due to loss of the reversal ow pattern), with
PSV <180cm/s.
5 50–75 % stenosis: shows biphasic or monophasic arterial
spectrum, with PSV >180cm/s (. Fig. 10.1.13 ).
5 75–99 % stenosis (high grade): shows biphasic or
monophasic arterial spectrum, with PSV >250cm/s.
5 As the stenosis becomes generalized and a ects a long
segment of the artery, the ow spectrum becomes
biphasic or monophasic, the acceleration upstroke is
reduced, and the systolic peak becomes rounded
(. Fig. 10.1.14 ).
Signs of Diabetic Nephropathy on Doppler Scan
5 Increased renal length and parenchymal thickness
due to glomerular hyperfiltration. The normal
kidney size is 10–12 cm in the longitudinal
diameter and 4–6 cm in the transverse diameter;
the normal renal parenchymal thickness is 1.6 cm.
5 RI of arcuate arteries is >0.7.
5 In advanced renal disease, there is increased
echogenicity of the renal cortex, with reduction of its
thickness.
The Role of MRI in DM
MRI is a powerful tool to detect early bone changes that may
not be seen on plain radiographs or evoke complaints –
unless they are severe and destructive. Contrast-enhanced
studies should be done to detect signs of so -tissue
in ammation, abscess formation, sinus tract detection, and
devitalization.
Signs of Diabetic Foot on MRI
5 A callus is detected on MRI as a soft-tissue area of
low T1 signal intensity with intense contrast
enhancement after contrast injection. It is typically
found at the first and fifth metatarsal heads, the
malleoli, and the calcaneus (
5 Devitalization is an area of soft tissue that is devoid
of vascular supply (tissue infarction). It is detected
on MRI as a soft-tissue area with low T1 and low T2
signal intensities, which shows no contrast
enhancement after contrast injection (like any
other tissue infarction in the body). It is important
to inform the surgeon about devitalization areas
for tissue debridement planning.
5 An ulcer is detected as an area of skin and
soft-tissue defect, with low signal intensity on T1W
images and intense enhancement after contrast
administration.
. Fig. 10.1.15 ).
. Fig. 10.1.13 Sagittal
ultrasound image of the
superfi cial femoral artery in a
patient with peripheral vascular
disease due to DM shows
monophasic arterial spectral wave
with PSV >250 cm/s ( arrowhead ),
representing >75–99 % arterial
stenosis
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Chapter 10 · Diabetology
. Fig. 10.1.14 Sagittal
ultrasound image of the superfi cial
femoral artery in a patient with
peripheral vascular disease due to
DM shows monophasic arterial
spectral wave with PSV <50 cm/s
( arrowhead ). As mentioned earlier,
the normal peripheral arterial
spectral wave for the superfi cial
femoral artery is triphasic, with
PSV <120 cm/s
10
5 Cellulitis is an area of soft-tissue inflammation and
is detected on MRI as an ill-defined area of soft
tissue with low T1 and high T2 signal intensities,
with ill-defined enhancement after contrast
administration (
. Fig. 10.1.16 ).
5 A n abscess is a localized area of pus collection and
typically detected as acystic area of low T1 and
high T2 signal intensities, with ring enhancement
after contrast administration (
. Fig. 10.1.17 ).
5 Reactive bone marrow is detected as a normal
(isointense) signal intensity of the bone marrow on
T1W images, with high signal intensity on T2W
images (
. Fig. 10.1.18 ).
5 Osteomyelitis is inflammation of the bone and the
bone marrow. It is detected on MR as areas of
cortical bone defect characterized by the following
characteristics: it diffuses bone marrow edema,
may show sequestrum, shows no bone deformities
(unless complicated by neuropathic joint), usually
underlies an ulcer (e.g., metatarsal heads), and
may show sinus formation into the skin surface,
and the soft tissue around it is usually inflamed
and shows marked contrast enhancement
(
. Fig. 10.1.19 ). Signs of periostitis may be found,
which is seen as linear contrast enhancement
surrounding the outer cortical margin. An
intraosseous abscess may occur in subacute
osteomyelitis ( Brodie ’ s abscess ), which is
characterized by the penumbra sign . The penumbra
sign is detected on MRI as a discrete zone of
. Fig. 10.1.15 Sagittal T1W ( a ) and STIR ( b ) ankle MR illustrations
demonstrate callus seen as an area of soft tissue with low T1 signal
intensity in ( a ) and with high T2 signal intensity in ( b ) ( arrowheads )
10.1 · Diabetic Hand and Diabetic Foot
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peripheral T2 hyperintensity signal surrounding a
high T2 signal intensity intraosseous abscess
(
. Fig. 10.1.19 ). Osteomyelitis is classically located in
a single focus. However, multiple lesions may be seen
in 20 % of cases.
5 Septic arthritis is inflammation of a joint due to
infection. It is detected on MRI as high T2 signal
intensity within a joint and its surrounded soft tissue,
with signs of joint effusion and cartilage destruction.
There is intense enhancement of the joint and its
surrounding soft tissue after contrast administration
(
. Fig. 10.1.20 ).
5 A foreign body is detected on MRI as an object of low
T2 signal intensity, surrounded by a high-intensity
signal in the soft tissues on T2W images (due to
edema around the foreign body) (
5 Neuroarthropathic joint ( Charcot ’ s joint ) has the same
presentation and signal intensities as osteomyelitis,
with destruction of the subchondral cortices.
Neuropathic joint is characterized by midfoot
predominance, subchondral cyst formation, normal
surrounding tissue with intact overlying skin,
a
. Fig. 10.1.21 ).
juxta-articular edema, signs of joint disorganization
and deformity (5Ds), and no signs of fluid collection
or abscess (
to neuropathic joint, predominates in pressure areas
such as the metatarsal heads in the forefoot and the
calcaneus in the hindfoot. The only common location
for osteomyelitis in the midfoot is in the cuboid bone,
which occurs in severe midfoot neuropathic joint.
However, bone biopsy remains the definite diagnostic
method to differentiate osteomyelitis from
neuropathic joints in diabetics.
5 Tenosynovitis is detected as normal tendon size,
surrounded by high T2 fluid-signal intensity on T2W
images.
5 Calcaneal insufficiency avulsion fracture is an
extra-articular fracture affecting the posterior third of
the calcaneus (
exclusively in diabetics. Sinus tract is detected as a
hypodense line extending from an area of bone
destruction to the adjacent soft tissues
(
. Fig. 10.1.19 ). It is best detected on postcontrast
fast-suppressed T1W images.
b
. Fig. 10.1.22 ). Osteomyelitis, in contrast
. Fig. 10.1.23 ). It is seen almost
. Fig. 10.1.16 Sagittal T1W ( a ) and STIR ( b ) ankle MRI show areas of low T1 and high T2 signal intensity lesions confi ned to the skin and
the subcutaneous tissue, without signs of bone marrow edema or joint eff usion ( arrowheads ), representing cellulites
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Chapter 10 · Diabetology
a
b
10
. Fig. 10.1.17 Sagittal T1W postcontrast ( a ) and STIR ( b ) ankle MR illustrations demonstrate abscess formation, seen as a cystic area
surrounded by rim contrast enhancement in ( a ) and seen as an area of cystic fl uid collection in ( b )
. Fig. 10.1.18 Sagittal T1W ( a ) and STIR ( b ) ankle MR illustrations demonstrate reactive bone edema aff ecting the posterior third of the
calcaneus
a
b
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10
. Fig. 10.1.19 Sagittal T1W postcontrast ( a ) and STIR ( b ) ankle MR illustrations show signs of osteomyelitis. Notice the calcaneal ulcer
with edema ( white arrowhead ), the penumbra sign ( black arrowhead ), sinus tract from the osteomyelitis spreading infection to the nearby
soft tissues ( arrow ), and signs of periostitis seen as linear high signal intensities located around the cortex of the calcaneus ( hollow
arrowhead )
a
b
. Fig. 10.1.20 Sagittal STIR ankle MR illustration
demonstrates talonavicular joint septic arthritis, seen as bone
marrow edema aff ecting the articular bones with joint eff usion
. Fig. 10.1.21 Sagittal STIR ankle MR illustration demonstrates a
foreign body surrounded by tissue edema located within the
infracalcaneal soft-tissue region
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Chapter 10 · Diabetology
. Fig. 10.1.22 Sagittal STIR ankle MR illustration
demonstrates talonavicular Charcot’s joint. Notice the midfoot
location, the joint deformity ( arrow ), the subchondral cysts
( arrowhead ), and the mild joint eff usion due to reactive
infl ammation
. Fig. 10.1.23 Sagittal T1W ankle MR illustration
demonstrates avulsion fracture of the posterior third of the
calcaneus ( arrowheads )
D i ff erential Diagnoses and Related Diseases
Congenital insensitivity to pain ( CIPA ): CIPA, also referred to
as hereditary sensory and autonomic neuropathy type IV , is a
rare disorder characterized by the inability to perceive pain
stimuli due to peripheral autonomic nervous system demyelination and reduced ber caliber. CIPA patients respond to
normal pain stimuli but not to painful stimuli. Early symptoms include decreased sweating (anhidrosis), which causes
episodes with extreme hyperpyrexia, multiple healed tongue
bites since infancy, and multiple missing teeth due to
auto-extraction (50 % of cases). Characteristically, CIPA
patients present with multiple bony features at varying stages
of the healing process. Interestingly, patients with CIPA
develop aseptic necrosis and osteochondritis in the juxtaarticular regions of the weight-bearing long bones (hip,
knees, and ankles). Joint radiographs of CIPA patients show
changes similar to those of chronic Charcot’s joint and osteomyelitis.
Further Reading
Abdel-Hafez HZ, etal. Congenital insensitivity to pain with
anhidrosis (CIPA). Egypt Dermatol Online J. 2007;3(1):5.
Beltran J, etal. e diabetic foot: magnetic resonance imag-
ing evaluation. Skeletal Radiol. 1990;19:37–41.
Bhanushali MJ, etal. Diabetic and non-diabetic lumbosacral
radiculoplexus neuropathy. Neurol India. 2008;56(4):420–5.
Bhute D, etal. Dermatographism. Indian J Dermatol Venerol
Leprol. 2008;74:177–9.
Biswal N, et al. Congenital indi erence to pain. Indian J
Pediatr. 1988;65:755–69.
Chantelau E, etal. “Silent” bone stress injuries in the feet of
diabetic patients with polyneuropathy: a report on 12
cases. Arch Orthop Trauma Surg. 2007;127:171–7.
Chatha DS, etal. MR imaging of the diabetic foot: diagnostic
challenges. Radiol Clin North Am. 2005;43:747–59.
Chuter V, et al. Limited joint mobility and plantar fascia
function in Charcot’s neuroarthropathy. Diabet Med.
2001;18:558–61.
Erickson SJ, etal. MR imaging of the tarsal tunnel syndrome
and related spaces: normal and abnormal ndings with
anatomic correlation. AJR Am J Roentgenol.
1990;155:323–8.
Gefen A, etal. Integration of plantar so tissue sti ness mea-
surements in routine MRI of the diabetic foot. Clin
Biomech. 2001;16:921–5.
Glauser SR, etal. Diabetic muscle infarction: a rare complica-
tion of advanced diabetes mellitus. Emerg Radiol.
2008;15:61–5.
Gold RH, etal. Imaging the diabetic foot. Skeletal Radiol.
1995;24:563–71.
Jung Y, et al. Diabetic hand syndrome. Metabolism.
1971;20(11):1008–15.
Marcus CD, etal. MR imaging of osteomyelitis and neuro-
pathic osteoarthropathy in the feet of diabetics.
Radiographics. 1996;16:1337–48.
McGuinness M, etal. Necrobiosis Lipoidica diabeticorum.
Foot. 1997;7:47–51.
Naderi ASA, et al. Diabetic muscle necrosis. J Diabet
Complications. 2008;22:150–2.
Nguyen VD, etal. Freiberg’s disease in diabetes mellitus.
Skeletal Radiol. 1991;20:425–8.
Nguyen K, etal. Necrobiosis Lipoidica diabeticorum treated
with chloroquine. J Am Acad Dermatol. 2002;46:S34–6.
Peyri J, et al. Necrobiosis lipoidica. Semin Cutan Med Surg
2007;26(2):87–9.
Piedra T, etal. Fournier’s gangrene: a radiologic emergency.
Abdom Imaging. 2006;31:500–2.
10. 2 · Diabetic Brain and Nervous System
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Purewal TS.Charcot’s diabetic neuroarthropathy: pathogen-
esis, diagnosis and management. Pract Diab Int.
1996;13(3):88–91.
Puttemans T, etal. Diabetes: the use of color Doppler sonog-
raphy for the assessment of vascular complications. Eur J
Ultrasound. 1998;7:15–22.
Reinhardt K. e radiological residua of healed diabetic
arthropathies. Skeletal Radiol. 1981;7:167–72.
Singson RD, et al. Postamputation neuromas and other
symptomatic stump abnormalities: detection with
CT.Radiology. 1987;162:743–5.
Singson RD, etal. Postamputation neuromas. Skeletal Radiol.
1990;19:259–62.
Tan PL, etal. MRI of the diabetic foot: di erentiation of infec-
tion from neuropathic change. Br J Radiol. 2007;80:939–48.
Tiwari S, etal. Tropical diabetic hand syndrome. Int J Diab
Dev Ctries. 2008;28(4):130–1.
10.2 Diabetic Brain and Nervous System
In advanced stages, diabetes mellitus (DM) can a ect the brain,
due to microangiopathy and prolonged exposure to hypoglycemia. Over the past decade, many researches have evaluated the
anatomical and functional status of the brain in diabetics compared to the normal population. is topic presents the most
common, well-documented brain changes in diabetics, as
reported in the medical and radiological literature.
DM type 1 can be associated (rarely) with choreaballismus episodes due to nonketotic hyperglycemia (NKH).
e cause of these chorea-ballismus episodes is unknown,
but it is believed that they are vascular in origin.
Chorea is de ned as involuntary, continuous, random,
fast, jerking, dance-like movements in the distal parts of the
limbs. Ballismus shows a picture similar to chorea, but the
movements are more irregular, of large amplitude, and violent, a ecting the proximal portion of limbs.
Nonketotic hyperglycemia ( NKH ) is a severe form of
hyperglycemia with hyperosmolarity and intracellular
dehydration, with little or no ketoacidosis. It is typically
observed in diabetic patients >50 years of age. NKH is
characterized by partial insulin de ciency with enough
insulin to inhibit ketoacidosis but not enough to transport
glucose into the cells. Hyperglycemia causes an osmotic
diuresis, with progressive dehydration, resulting in NKH.Up
to 40 % of patients with NKH develop seizures beside the
chorea-ballismus episodes.
e incidence of stroke is six times higher in patients with
DM than in nondiabetics. is high stroke risk can be
explained by the high incidence of atherosclerosis of the
internal carotid artery in diabetics.
Many researchers reported high cerebral brain atrophy
among long-term diabetics. Patients with DM type 2 were
found to have an increased risk of Alzheimer’s disease (AD)
and vascular dementia. AD in diabetics is believed to be due
to the increase in advanced glycation end products, which
increase aggregation of proteins involved in AD development.
Furthermore, dysfunction of insulin signaling in the brain
has been implicated in the pathogenesis of AD.Subcortical
arteriosclerosis encephalopathy can develop in diabetics due
to brain vessel atherosclerosis.
Cranial nerve involvement in DM is a rare complication.
A single cranial nerve ( diabetic mononeuritis ) or multiple
cranial nerves ( mononeuritis multiplex ) can be involved. DM
classically a ects the cranial nerves CN III, CN IV, CN VI,
and CN VII.Cranial nerve involvement in diabetes is thought
to be a result of microvasculitis and resultant ischemic injury
to the nerves.
Patients with diabetic ketoacidosis ( DKA ) can develop
subclinical cerebral edema for unknown reasons. e brain
edema can start before or a er treatment initiation. Patients
with DM type 1 are most commonly a ected, and it occurs
in > 1 % of cases. Typically, patients present with severe headaches that can progress (rarely) into brain herniation. Other
manifestations of symptomatic brain edema due to DKA
include a drop in heart rate, altered mental status that ranges
from dizziness to coma, and increased blood pressure.
Signs on CT and MRI
5 Stroke is seen as a hypodense area on CT or a
hyperintense area on T2W MR images. Focal
neurological deficits and the clinical picture
suggest the diagnosis.
5 I n NKH – ballismus episode , CT scan of the basal
ganglia (caudate and putamen) is hyperdense
compared to the rest of the brain parenchyma
(
. Fig. 10.2.1 ). Normal basal ganglia attenuation is
between 33 and 36 HU. In diabetic chorea, the
basal ganglia show attenuation between 40 and
51 HU. This finding is believed to be caused by
multiple petechial hemorrhages within the basal
ganglia. On MRI, the basal ganglia show
hyperintense signal intensity on both T1W and
T2W images (
and can be observed in cases of hepatic
encephalopathy, carbon monoxide toxicity, Wilson
disease, and neurofibromatosis.
5 Generalized brain atrophy is seen in diabetics with
signs of dementia. The hippocampus and the
amygdale volume are reduced in diabetics who
develop signs of dementia.
5 Signs of subcortical arteriosclerosis
encephalopathy may be seen when the clinical
status of the patient suggests dementia.
5 Diabetic mononeuritis is detected as enhancement
of the affected cranial nerve after contrast
injection ipsilateral to the site of cranial nerve
clinical deficits. Multiple cranial nerve
enhancements are seen in mononeuritis multiplex.
5 Diabetic ketoacidosis brain edema often shows signs of
loss of gray-white matter diff erentiation, eff acement of
the sulci, and decrease in ventricular size.
. Fig. 10.2.1 ). This sign is not specific
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Chapter 10 · Diabetology
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a
b
. Fig. 10.2.1 Axial nonenhanced brain CT ( a ) and MR ( b ) illustrations demonstrate high-density basal ganglia ( a ) and high-intensity
signal of the basal ganglia ( b ), which is a sign detected in patients with ballismus episodes and in patients with nonketotic hyperglycemia
Further Reading
10.3 Diabetic Syndromes
Araki Y, et al. MRI of the brain in diabetes mellitus.
Neuroradiology. 1994;36:101–31.
Brands AMA, etal. Cognitive functioning and brain MRI in
patients with type 1 and type 2 diabetes mellitus: a comparative study. Dement Geriatr Cogn Disord. 2007;23:343–50.
Harten BV, etal. Brain imaging in patients with diabetes. A
systematic review. Diabetes Care. 2006;29(11):2539–46.
Diabetic syndromes are a group of diseases characterized by
the development of diabetes mellitus (DM) in childhood.
Most of these diseases are originally syndromes, with DM
constituting a major manifestation of these syndromes. is
topic describes the most common pediatric syndromes associated with DM.
Kelkar P, etal. Mononeuritis multiplex in diabetes mellitus:
evidence for underlying immune pathogenesis. J Neurol
Neurosurg Psychiatry. 2003;74:803–6.
Alström Syndrome
Lai PH, etal. Chorea-ballismus with nonketotic hyperglyce-
mia in primary diabetes mellitus. AJNR Am J Neuroradiol.
1996;17:1057–64.
Lavin PJM.Hyperglycemic hemianopia: a reversible compli-
cation of non-ketotic hyperglycemia. Neurology. 2005;65:
616–9; den Heijer T, etal. Type 2 diabetes and atrophy of
medial temporal lobe structures on brain
MRI.Diabetologia. 2003;46:1604–10.
Pacheco E, etal. Pathophysiology and computed tomography
ndings in a case of diabetic ketoacidosis. Int Pediatr.
1999;14(2):118–20.
Witzke KA, etal. Diabetic neuropathy in older adults. Rev
Endocr Metab Disord. 2005;6:117–27.
Alström syndrome (AS) is a very rare genetic disease, characterized by infantile dilated cardiomyopathy, diabetes mellitus, pigmentary retinal dystrophy causing blindness,
sensorineural hearing loss, and obesity.
e disease has an autosomal recessive mode of inheritance, and it is linked to mutation in the short arm of chromosome 2. Dilated cardiomyopathy is the earliest
manifestation of this syndrome and classically starts in the
third to fourth week of life. Blindness and sensorineural
hearing loss in an obese child should trigger the suspicion
of AS.
Diagnostic and key features of AS include:
10.3 · Diabetic Syndromes
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Ophthalmologic Clinical Findings
5 Atypical pigmentary retinopathy without classical bone
spicules is a constant nding ( diagnostic criterion ).
5 Nystagmus usually appears during the rst 1–2 years of life.
5 Visual deterioration occurs during the rst decade of life.
5 Loss of the papillary reactions appears during the second
decade of life.
Auditory Clinical Findings
Progressive, bilateral sensorineural hearing loss is found
within the rst decade of life ( diagnostic criterion ).
Metabolic and General Clinical Findings
5 Obesity with hypertriglyceridemia from birth ( diagnostic
criterion ).
5 Hyperinsulinemia and noninsulin-dependent DM
( diagnostic criterion ).
5 Hepatic failure and hypogonadism are found occasionally.
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Signs on IVU
5 Bilateral small kidney size
5 Multiple calyceal clubbing and blunting, with
medullary cysts in the absence of reflux on voiding
cystourethrogram
5 Persistent fetal lobulation
Signs on US
5 Loss of differentiation between the medulla and
the cortex
5 Hyperechogenic parenchyma with multiple cysts
5 Moderately dilated renal pelvis
10
Renal Clinical Findings
Renal deterioration is a constant nding, and it is age related,
o en starting within the second decade of life.
Dermatological Clinical Findings
Areas of hyperpigmentation and papillary hypertrophy on
the neck and exor creases (acanthosis nigricans) may be
found occasionally.
Signs on Chest Radiographs
Increased cardiaothoracic ratio and signs of dilated
cardiomyopathy can be seen in advanced stages.
Signs on US and CT
Multiple hyperechoic or hypodense liver lesions may be
found with heterogeneous contrast enhancement. The
lesions are usually due to hepatocellular adenoma with
pericellular fi brosis.
Bardet–Biedl Syndrome
Bardet–Biedl syndrome (BBS) is a rare, genetically heterogeneous disease, characterized by noninsulin- dependent DM
in adulthood, ocular abnormalities, mental retardation, obesity, polydactyly, and renal dysfunction.
BBS has an autosomal recessive mode of inheritance,
with prevalence of 1in 125,000 live births. Key features of
BBS include pigmentary (rod-cone) retinal dystrophy in the
second decade of life (95 % of cases), truncal obesity with
normal appetite (85 % of cases), genital hypoplasia (74 % of
cases), mental retardation (70 % of cases), postaxial polydactyly (80 % of cases), and renal anomalies. Chronic end-stage
renal failure is a constant feature (100 % of cases). Renal
anomalies are the main cause of mortality in BBS patients.
Signs on Plain Radiographs
Postaxial polydactyly and cutaneous syndactyly are
classically found.
e main di erential diagnosis of BBS is AS.How can you
di erentiate between the two conditions?
5 Dilated cardiomyopathy is a feature of AS, not a feature
of BBS.
5 Mental retardation is a feature of BBS, not a feature of AS.
5 Bilateral sensorineural hearing loss is found in AS, but
not in BBS.
Leprechaunism (Donohue Syndrome)
Leprechaunism (Donohue syndrome) is a very rare genetic
metabolic disease, characterized by insulin-resistant DM
with fasting hypoglycemia due to severe insulin receptor
mutation. Infants with leprechaunism exhibit severe DM at
birth, postnatal growth retardation, atrophy of the subcutaneous fat, characteristic facial features, and acanthosis
nigricans.
Leprechaunism is a fatal disease, and most a icted infants
die before the age of 1 year. e disease has an incidence of 1:
4 million live births. e term “leprechaunism” is derived
from “leprechaun,” a green, manlike creature with magical
powers, according to Irish folklore. e infant’s features are
acclaimed to be similar to the features of this mythical creature.
e key features of leprechaunism include hirsutism,
severe failure to thrive (that might lead to death in the early
months of life), growth retardation and failure to thrive, and
areas of hyperpigmentation and papillary hypertrophy on
the neck and exor creases (acanthosis nigricans). Notice
that all these features are seen in an infant. Laboratory investigations typically show hyperinsulinemia, hyperandrogenism, and elevated cord human chorionic gonadotropin
(hCG).
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Chapter 10 · Diabetology
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Prader–Willi Syndrome
Prader–Willi syndrome (PWS) is an autosomal dominant,
multisystemic disease, characterized by multiple features that
are almost all related to hypothalamic dysfunction. PWS has
a prevalence rate of 1in 15,000 live births.
PWS is characterized by hyperphagia and obesity, starting in the teens. Obesity is the major cause of morbidity and
mortality in PWS. DM (19 %), hypertension, obstructive
sleep apnea, lower limb edema, and varicosity all can be
explained by the morbid obesity caused by this disease.
Key features of PWS include almond-shaped palpebral
ssures, dolichocephalic (wide) skull, micropenis, hypoplastic scrotum and hypogonadism, and history of fetal hypotonia and poor sucking. Body habitus features include sloping
shoulders, genu valgum, and heavy midsection. Patients with
PWS have high serum levels of “ghrelin,” a peptide released
from the stomach that can stimulate food intake.
Signs on Plain Radiographs
Lateral skull radiograph shows small sella turcica with
prominent posterior clinoid process.
joints affected are the hips (100 %), knees, and
ankles. There is no epiphyseal sclerosis. Hands and
wrists are involved in the severe form. The fingers
and toes are short and thick. Hypoplastic tarsal
and carpal bones may be seen. Persistent calcified
cartilage within the bone may be found.
5 Osteoporosis.
Wolcott–Rallison Syndrome
Wolcott–Rallison syndrome (WRS) is a rare disease characterized by neonatal permanent DM, with multiple epiphyseal
dysplasia causing short stature (dwar sm).
WRS has an autosomal recessive mode of inheritance,
and the a ected child has tendency to long bone fractures.
WRS patients have a waddling gait and lordotic posture, with
genu valgum.
Other abnormalities of WRS include hypoplastic pancreas, blue sclera, brown mottling of the teeth, mental retardation, seizures, and renal, hepatic, and cardiac abnormalities.
Mild chronic neutropenia is reported in many cases but
without immune de ciency.
Multiple epiphyseal dysplasia ( Fairbank disease ) is a genetic
disease with autosomal dominant mode of inheritance, characterized by abnormalities in maturing epiphyses, resulting in
dwar sm and stubby digits. e disorder is almost always bilateral. e disease is divided into a severe form (Fairback subtype) and a milder form. Patients usually present with severe
exion contractures, juvenile osteoarthritis, limb deformities,
and limping during early childhood, with a duckling gait.
Signs on Radiograph
5 Multiple epiphyseal dysplasia is characterized by
bilateral hypoplastic epiphyses with irregular
contour in the Fairbank form. Flattening of the
epiphyses may be seen in the mild form
(
. Figs. 10.3.1 and 10.3.2 ). The most common
. Fig. 10.3.1 Anteroposterior plain hip radiograph of a child
with multiple epiphyseal dysplasia shows bilateral femoral
epiphyses fragmentation and fl attening ( arrowheads ), with right
hip dislocation
. Fig. 10.3.2 Plain right shoulder radiograph of the same
patient shows severe humeral epiphysis hypoplasia and
dysplasia ( arrowhead )
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