Seckel syndrome is a rare autosomal recessive
disorder characterized by proportionate dwarfism, delayed mental
development, microcephaly and typical facial appearance(1-4). Renal
involvement in this syndrome is quite rare(2). On the other hand,
polyarteritis nodosa is also a rare, systemic necrotizing vasculitis of
medium-sized arteries and frequently involves the kidneys, skin, joints,
gastrointestinal tract and central and peripheral nervous system(5-8).
Although aneurysms are regarded as classical angio-graphic findings in
polyarteritis nodosa, there are other non-aneurysmal angiographic
findings that should also be considered in the diagnosis of
polyarteritis nodosa.
We report a case of Sekel syndrome with cerebral
infarct and severe hypertension whose investigations showed
polyarteritis nodosa. To the best of our knowledge, polyarteritis nodosa
in Seckel syndrome has not been reported previously.
Case Report
A 9-year-old boy with left arm and leg weakness of
two weeks duration and difficulty in walking was admitted to our
hospital. Six months ago, he had been diagnosed as having malignant
hypertension and chronic renal insufficiency, and treated with enalapril,
nifedipine and furosemide. Past medical history revealed low birth
weight, mental and motor development delay and surgery for left club
foot. His parents were second degree relatives. On physical examination
the weight, height and head circumference were below the 3rd percentile.
Micrognathia, malocclusion of the teeth, prominent "bird-like" nose, pes
plana valgus and hallux valgus deformities were present (Fig. 1).
Neurological examination showed 3/5 power, hyperactive deep tendon
reflexes and positive Babinski sign on the left. Laboratory findings
showed hemo-globin level of 7.9 g/dL, leukocytes 14,600/cu mm, urea
nitrogen 87 mg/dL, creatinine 2.2 mg/dL, sodium 134 mEq/L, potassium 5.8
mEq/L, calcium 9 mg/dL, albumin 3.5 g/dL, uric acid 6.3 mg/dL and
phosphate 5.6 mg/dL. Blood level of creatine kinase was 23 U/L (normal
0-172 U/L), C-reactive protein was negative and glomerular filtration
rate was 14 ml/min. A detailed hepatitis B serology was negative and
blood levels of proteins C and S normal. Serology for antinuclear
cytoplasmic antibodies was negative. Urinalysis showed a specific
gravity of 1020, pH 5, trace proteinuria and 2-3 white cells/HPF.
Echocardiography showed mitral insuffi-ciency and left ventricle
dilatation and hyper-trophy. Glomerular filtration rate was calculated
as 7% on DTPA examination. Electromyography was normal. Renal ultra-sonography
showed increased parenchymal echoes bilaterally. Cranial computed
tomography examination showed infarct in the right frontal region and
magnetic resonance angiography demonstrated irregular narrowing in right
middle cerebral artery and right posterior cerebral artery. Cranial
digital subtraction angiography examination revealed wide-spread
narrowing, irregularity, especially prominent in middle cerebral artery
and supra-clinoid internal carotid artery. Mesenteric and renal
angiography showed multiple small saccular aneurysms in the intrarenal
branches of the right renal, lumbar and jejunal branch of superior
mesenteric arteries and peripheral renal perfusion defects bilaterally (Fig.
2). On basis of the modified American College of Rheumatology (ACR)
classification criteria, he was diagnosed as having polyarteritis
nodosa(8). Antihypertensive medications and oral prednisolone (1
mg/kg/day) were given, and hemodialysis initiated. After one month of
treatment, no significant response to therapy was observed. Since the
patient was lost to follow-up, other treatment options could not be
performed.
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|
Fig. 1. Facial appearance of Seckel
syndrome; note the micrognathia, malocclusion of the teeth,
prominent "bird-like" nose. |
 |
 |
|
Fig. 2. Right renal artery (A)
and superior mesenteric artery (B) injections show
small saccular aneurysms in the intrarenal branches of the right
renal (black arrows), lumbar (white arrow) and jejunal branch of
superior mesenteric (curved arrow) arteries. |
Discussion
Seckel syndrome is an autosomal recessive condition
without any sex predilection, with a incidence reported of 1:10,000
live-born children(3,4). Due to inconsistency in diagnosis, less than
one-third of the reported cases appear to fulfil Seckel’s original
criteria(4). Low birth weight, microcephaly, proportionate short
stature, moderate to severe mental retardation, secondary premature
synostosis, retarded bone age, and characteristic facial anomalies,
including receding forehead and chin, antimongoloid slant of the eyes, a
large and prominent beaked nose and large or bulging eyes, clinodactyly
of the fifth finger, dislocation of the radial head, absent ear lobes,
dental abnormalities, 11 pairs of ribs, receding hair and redundant
wrinkled skin on the palms are characteristic(1-4). The present case had
low birth weight, microcephaly, beaked nose, micrognathia, prominent
upper jaw, develop-mental delay and mental retardation.
Polyarteritis nodosa is a rare, systemic necrotizing
arteritis with nodules along the walls of medium and small muscular
arteries(5,6,8). Polyarteritis nodosa affects multiple organ systems,
most commonly kidneys, gastrointestinal tract, nervous system, muscles
and soft tissue(5,7,8). There is a considerable overlap in the clinical
features of vasculitides in childhood, therefore the epidemiology of
polyarteritis nodosa is probably imprecise(5,8). Ozen, et al.(9)
defined two major and ten minor criteria for identifying pediatric
patients with polyarteritis nodosa. They suggest that in patients with
five of these 12 diagnostic criteria, especially those with renal
involvement, therapy should be initiated promptly while diagnostic
proce-dures are being carried out(9). Our case had one major (renal
involvement) and five minor criteria (hypertension, leukocytosis,
peri-pheral neuropathy, constitutional symptoms, central nervous system
involvement). The original ACR criteria for polyarteritis nodosa in
adults were modified to make the criteria applicable to children and
related to defini-tions of weight loss, hypertension, and elevation of
blood urea nitrogen and creatinine. The presence of three or more of the
criteria defined a patient as having polyarteritis nodosa(8). In our
case there were more than three of the required criteria (failure to
thrive, leg tenderness and weakness, systemic hypertension, elevated
urea nitrogen and creatinine, arteriographic abnormalities). Although
tissue biopsy and visceral angiography are important diagnostic tools
for polyarteritis nodosa, none of these has proved to be the
gold-standard(8). Multiple aneurysms in various organs (typically
kidney, liver and intestines), vessel narrowing and occlusion are the
classic angiographic manifestations of polyarteritis nodosa, and more
than two-thirds of all patients have positive abdominal arteriograms(5).
We could not find any biological basis for the
association of Seckel syndrome and polyarteritis nodosa in the present
case and therefore this could be coincidental recurrence of two rare
conditions.
Contributors: RK, CY, AA and OK were involved in
management of the patient. RK and AA prepared and CY and OK reviewed and
edited the manuscript. RK will act as the guarantor of the paper.
Funding: None.
Competing interests: None.
