case report 1

obese woman patient diagnosed with high active Systemic lupus erythematosus
Abstract
Background: Systemic lupus erythematosus is a chronic multisystemic autoimmune disease which
remains unknown and is clearly multifactorial. obesity have recently been reported to play a role in the
pathogenesis of autoimmune diseases. We report here case of obese woman patient diagnosed with
high active SLE
Case presentation: A 38-year-old woman with morbid obesity (BMI =44 kg/m²). She presented a
neurologic disorder as confusion syndrome. That symptom of the illness raised the suspicion of an
infective, toxic, or metabolic causes, which was excluded during further investigations. Prolonged low-
grade fever, polyarthralgias and diffuse demyelinating lesions on brain MRI, nephritic syndrome and
positive auto immune markers which Diagnosis of SLE with neurologic and membranous nephritis
manifestations. The symptoms rapidly responded to high doses of steroids and cyclophosphamide. The
patient was in remission but sometimes she presents recurrent urinary tract infections
Conclusion: The frequency of obesity is higher in patients with SLE than in general populations. It seems
to be the impact of obesity on the pathogenesis of SLE and disease activity has attracted a lot of
attention.
Keywords: systemic lupus erythematosus SLE, obesity,
References
1. Obesity and the risk of systemic lupus erythematosus among women in the Nurses' Health
Studies Sara K Tedeschi and al PMID: 28688713 PMCID: PMC5675759 DOI:
10.1016/j.semarthrit.2017.05.011
2. The Impact of Obesity and a High-Fat Diet on Clinical and Immunological Features in Systemic
Lupus Erythematosus Masanori Kono,
3. https://www.lupus.org/resources/obesity-and-lupus
4. Lupus pathogenesis and autoimmunity are exacerbated by high fat diet-induced obesity in
MRL/lpr mice Xin Zhang1, Juan Me
Efficacity of enzyme replacement therapy in Mucopolysaccharidosis
type I Scheie syndrome
Background: Mucopolysaccharidosis I is a rare inherited disorder that belongs to a group of clinically
progressive disorders and is caused by the deficiency of the lysosomal enzyme, α1-iduronidase. MPS I
has been recently classified depends on severity. The purpose of this article was to describe a rare case
of MPS type I, attenuated type (Scheie) affecting a young female.

Keywords: Autosomal recessive, iduronidase, mucopolysaccharidosis
Case presentation: A 21-year-old female, with a known diagnosis of MPS type I Sheie was referred to a
pediatric department who presented with a combination of skeletal, oro-facial, ophthalmologic, cardiac
and radiological findings of this disease. The symptoms progressively responded to enzyme replacement
therapy of alpha iduronidase and supportive care was given during 13 years .now she has normal
intelligence & stature but have significant joint involvement ,mitral disease and Ophthalmological
features include glaucoma,
Conclusion: Early disease diagnosis and regular follow-up with enzyme replacement therapy can reduce
mortality significantly and improve the child’s health status.
References
Hurler Syndrome (Mucopolysaccharidosis Type 1): A Case Report Alexander Muacevic and John R Adler
1. Introduction
Ulcerative colitis is a chronic systemic large bowel inflammatory condition with an incidence of 2.2 to
14.3 cases per 100,000 person-years [1]. Extraintestinal manifestation accounts for 25% of patients with
inflammatory bowel disease, also their occurrence depends on disease activity and a combination of
factors [2]. Review of the literature reported only a few cases of inflammatory myopathy in association
with UC. We report an unusual presentation of polymyositis in a young patient with quiescent UC on
long-term mesalamine therapy.
2. Case Report
A 28-year-old young lady with ulcerative colitis since 2017, diagnosed based on colonoscopic
appearance and biopsy and maintained on mesalazine 1 g twice daily. The patient had been in remission
for 4 years. She presented to the emergency department with progressively constitutional symptoms as
fever and asthenia, diffuse myalgias with Symmetric proximal muscle weakness and polyarthralgias for
the last three weeks. But no cutaneous lesions also no diarrhea corresponding to “mild” clinical
ulcerative colitis in the classification of Truelove and Witts. The patient reported throat discomfort few
days prior to admission and was presumptively diagnosed with tonsillitis. She received amoxicillin
without benefit. She denied any recent travel, sick contacts, taking any new medications, or any change
in her diet.

Laboratory tests showed the following: white cell count of 7,600/ mm3 and hemoglobin of10.7 g/dl,
platelets count of 210,000/ mm3. Other laboratory values revealed a sedimentation rate of 74 mm/hr
and CRP 13.59 mg/dL. Liver function tests, renal tests, electrolytes and Thyroid test were normal range.
CPK was elevated 1433 IU/l. Hepatitis serologies, HIV serology, Urine culture and Blood cultures were all
negative.
Patient had an echocardiogram and US Doppler of lower extremities which were reported as normal.
She had a CT Abdomen was normal. Her colonoscopy was found in endoscopic remission. Autoimmune
serologies including myositis antibody panel were positive.
Electromyography of the quadriceps and deltoid muscles revealed abundant low-amplitude and short-
duration potentials indicating a myopathy, no electrical findings of myasthenia gravis.
Left lower leg muscle biopsy showed fragments of the presence of macrophages and activated
lymphocytes cells in muscle fibers with mononuclear cell invasion around non-necrotic muscle fibers in
endomysial areas without vacuolated, necrotic and regenerating fibers,
During the course of her hospitalization, she was started on prednisone (1 mg/kg/day) for 4 to 8 weeks
which dramatically improved her symptoms, followed by slow taper to low dose prednisone (5 to 10 mg)
over 6 months, and subsequent attempt to wean off prednisone by 12 months, Her treatment be
combined with azathioprine (2 mg/kg/day) to reduce the side effects of the glucocorticoid and to boost
the immunosuppressive effect. She was followed up by us and her disease was in remission for one year.
3. Discussion
UC is a chronic systemic inflammatory condition primarily involving the mucosa of the colon associated
with relapsing and remitting episodes. It is also associated with multiple extra-intestinal manifestations
with prevalence of approximately 25% during the course of the disease [1, 2]. Polymyositis is a
particularly rare EIM of UC. The earliest case of myositis associated with UC was reported by Oshitani et
al [5].
Review of the literature shows only a few cases describing an association of ulcerative colitis and
inflammatory myositis [1, 4], most of them during the acute relapse of the disease but activity of bowel
disease does not seem to be essential for occurrence or progression of myositis [2]. In addition, the
interval from diagnosis of IBD and occurrence of myositis was considered, it was found that the majority
of patients developed myositis 5 years after the onset of IBD as our report, also sometimes it can be
more than 10 years [3].
We report a case of polymyositis according to criteria of Bohan and Peter, in a young patient who was
in remission from UC on long-term with mesalamine. The diagnosis of myositis is usually based on the
presence of symptoms typical of the disease and positivity of two out of three assessments: muscular
histology, EMG and serum markers of myolysis such as CPK, LDH. Some authors have highlighted the
usefulness of magnetic resonance imaging (MRI) [3].

Myositis can either be a direct consequence of disease activity of the bowel (e.g., rhabdomyolysis,
electrolyte imbalance, and dehydration) or be an immune-mediated response as in our patient [3, 4].
Understanding the pathogenesis of immune-mediated EIM can help with early recognition and adequate
and aggressive management, which will contribute to complete recovery and faster remission [4]. In our
case, complete remission was achieved by adding corticosteroids and azathioprine to mesalamine.
Treatment of myositis is usually based on the oral administration of steroids, either alone or in
association with immunosuppressants such as azathioprine, methotrexate, the efficacy of these agents
in the treatment of UC supports the hypothesis of a common pathogenetic mechanism of myositis and
IBD. The use of biological agents has significantly changed the management of myositis in IBD patients
resistant to conventional treatment [2, 3].
Conclusion:
This case report indicates that the diagnosis of polymyositis should be considered in ulcerative colitis
patients complaining of myalgia or muscular weakness, that disease activity is not necessary for the
onset of myositis. Furthermore, early recognition of these extra-intestinal manifestations should be
helpful in guiding therapy that will reduce overall morbidity in affected patients. The both are
responded well to corticosteroids and azathioprine.
References
1- Polymyositis of the skeletal muscles as an extraintestinal complication in quiescent ulcerative colitis.
Voigt E, Griga T, Tromm A, Henschel MG, Vorgerd M, May B. Int J Colorectal Dis. 1999 Dec;(PMID:
10663900
2- Recurrent Inflammatory Myositis as an Extra-Intestinal Manifestation of Dormant Ulcerative Colitis in
a Patient on Long-Term Mesalamine. Naramala S, Konala V Case Rep Gastrointest Med.
3-Skeletal muscle disorders associated with inflammatory bowel diseases: occurrence of myositis in a
patient with ulcerative colitis and Hashimoto's thyroiditis--case report and review of the literature.
Paoluzi OA, Crispino P, Int J Colorectal Dis. 2006 Jul
4-Dermatomyositis: A Rare Extra-intestinal Manifestation of Ulcerative Colitis Chang Hyun Park1, Na
Hye Myong Journal of Rheumatic Diseases Vol. 23, No. 3, June, 2016
5- A case of dermatomyositis followed by multiple mononeuritis with the history of ulcerative colitis and
Basedow's disease Oshitani H et al . J Kyorin Med Soc 1981;
.