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Cristina Campean

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Articole semnate de acelasi autor in Revista Romana de Pediatrie:

DIABET DE TIP I – DIAGNOSTIC BAZAT PE COMPLICATII

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Revista Romana de PEDIATRIE | Volumul LXIV, Nr. 2, An 2015
ISSN 1454-0398  |  e-ISSN 2069-6175
ISSN-L 1454-0398
DOI: 10.37897/RJP

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National Awards “Science and Research”

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DIABET DE TIP I – DIAGNOSTIC BAZAT PE COMPLICATII

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REZUMAT

Vă prezentăm un caz atipic de diabet zaharat de tip I la debut, cu multiple abcese, diagnostic confirmat de testele de laborator.
Acest caz este al unei fete în vârstă de 14 ani care s-a prezentat cu abcese ale coapselor şi ale zonei inghinale.
Analizele obişnuite efectuate au arătat hiperglicemie cu glucoză în urină, însoţite de scădere ponderală, poliurie şi polidipsie. Abcesele au fost incizate şi drenate. Semnele patologice întâlnite la examenul obiectiv au fost: stare generală influenţată, turgor cutanat diminuat, buze uscate, multiple abcese fi stulizate ale coapselor, hypogastrice şi ale zonei inghinale, faringe şi amigdale hiperemice. Analizele de sânge au descoperit hiperglicemie (272 mg/dl), leucocitoză cu granulocitoză, trombocitoză, valori crescute ale hemoglobinei. Datele clinice şi para clinice au fost sugestive pentru diabet zaharat de tip I complicat cu abcese. Tratamentul a constat în terapie de substituţie cu insulină asociată cu antibiotice, antimicotice, analgezice, antipiretice, perfuzii pentru rehidratare.
Evoluţia cazului a fost favorabila sub tratament cu insulină, starea abceselor cutanate s-a îmbunătăţit foarte mult după tratamentul chirurgical şi cel antibiotic, dar s-au vindecat complet doar după echilibrarea diabetului zaharat.
În concluzie, deşi în literatura de specialitate este raportată apariţia infecţiilor cutanate multiple la pacienţii cu diabet zaharat incorect trataţi, acestea sunt rar diagnosticate la debutul acestei boli la copii, acest fapt fiind datorat cel mai probabil debutului adesea acut la această vârstă.

Cuvinte cheie: diabet zaharat, copil, complicaţii

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TYPE I DIABETES MELLITUS – DIAGNOSIS BASED ON COMPLICATIONS

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Revista Romana de PEDIATRIE | Volumul LXIV, Nr. 2, An 2015
ISSN 1454-0398  |  e-ISSN 2069-6175
ISSN-L 1454-0398
DOI: 10.37897/RJP

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DOI - Crossref
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National Awards “Science and Research”

NEW! RJP has announced the annually National Award for "Science and Research" for the best scientific articles published throughout the year in the official journal.

ICMJE- Recommendations

Read the Recommendations for the Conduct, Reporting, Editing, and Publication of Scholarly work in Medical Journals.

Promoting Global Health

The published medical research literature is a global public good. Medical journal editors have a social responsibility to promote global health by publishing, whenever possible, research that furthers health worldwide.

TYPE I DIABETES MELLITUS – DIAGNOSIS BASED ON COMPLICATIONS

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ABSTRACT

We present you an atypical case of type 1 diabetes mellitus at onset, with multiple abscesses, diagnosis confirmed afterwards by laboratory tests. This report is of a 14 year-old girl, who presented with abscesses of thighs, hypogastric and inguinal area. The regular investigations performed pointed out hyperglycemia with glucose in the urine, accompanied by weight loss, polyuria and polydipsia. The abscesses were incised and drained. The pathological signs of the clinical examination were: influenced general status, decreased skin turgor, dry lips, multiple fistulized abcesses of the thighs and hipogastric area, hyperemic pharynx and tonsils. The blood tests revealed hyperglycemia (272 mg/dl), leucocytosis with granulocytosis, thrombocytosis, and increased values of hemoglobin. The clinical and paraclinical data were suggestive for type I diabetes mellitus, complicated with abscesses. The treatment consisted in substitutive treatment with insulin associated with antibiotics, antimycotics, analgesics, antipyretics, endovenous perfusions for rehydration. The evolution of the case was favorable under treatment with insulin, the condition of the cutaneous abscesses improved very much after surgical treatment and administration of antibiotics, but they healed only after the equilibration of diabetes mellitus.

In conclusion, even though in the specialty literature it is reported that there appear multiple cutaneous infections in patients with diabetes mellitus wrong treated, these are rarely diagnosed at the onset of this disorder in children, this fact being probably explained by the acute onset of the disease at this age.

Keywords: diabetes mellitus, child, complications

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UN CAZ RAR DE SINDROM HUNTER – PREZENTARE DE CAZ

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Revista Romana de PEDIATRIE | Volumul LXIV, Nr. 1, An 2015
ISSN 1454-0398  |  e-ISSN 2069-6175
ISSN-L 1454-0398
DOI: 10.37897/RJP

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HIGHLIGHTS

National Awards “Science and Research”

NEW! RJP has announced the annually National Award for "Science and Research" for the best scientific articles published throughout the year in the official journal.

ICMJE- Recommendations

Read the Recommendations for the Conduct, Reporting, Editing, and Publication of Scholarly work in Medical Journals.

Promoting Global Health

The published medical research literature is a global public good. Medical journal editors have a social responsibility to promote global health by publishing, whenever possible, research that furthers health worldwide.

UN CAZ RAR DE SINDROM HUNTER – PREZENTARE DE CAZ

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REZUMAT

Mucopolizaharidozele (MPZ) sunt un grup de boli genetice rare din marea familie de boli lizozomale. Tulburările (MPZ) sunt cauzate de o defi cienţă în activitatea unei enzime lizozomale specifice necesare pentru degradarea glicozaminoglicanilor (GAG). MPZ tip II, numită şi sindromul Hunter, constă dintr-un defi cit al unei enzime, iduronat-2-sulfataza.

Vă prezentăm un caz rar de sindrom Hunter cu prezentare atipică. Este vorba despre un băiat de 2,7 ani, care s-a prezentat la Clinica Pediatrie I cu simptome de infecţie a tractului respirator, cu antecedente de multiple infecţii aleotice şi respiratorii. Examenul clinice evidenţiat: statură mare, moderat supraponderal, dismorfism facial (caracteristici faciale grosiere, frunte proeminentă, nas lărgit şi deprimat), degete mici butucănoase, cu flexie a articulaţiilor interfalangiene distale, rigiditate articulară, abdomen proeminent cu hernie ombilicală, hepatomegalie şi splenomegalie, precum şi uşor retard mental. Aspectul clinic a fost sugestiv pentru MPZ tip I, II sau VII. Dozarea enzimelor cu rol în metabolismul mucopolizaharidelor lizozomale a relevat un nivel scăzut al iduronat-2-sulfatazei, modificari caracteristice pentru MPZ tip II. Diagnosticul enzimatic a fost confirmat prin analiza ADN-ului molecular care a arătat o mutaţie a genei hemizigote iduronate-2-sulfatazei la nivelul intronului 3 (c.419-2A>G). S-a instituit terapia de substituţie enzimatică genetic recombinată de iduronat-2-sulfatază (Elaprase®).

Evoluţia cazului, după aproape doi ani de tratament cu Elaprase este favorabil, fără pierderi ale achiziţiilor neurologice.

Cuvinte cheie: sindrom Hunter, copil

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A RARE CASE OF HUNTER SYNDROME – CASE REPORT

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Revista Romana de PEDIATRIE | Volumul LXIV, Nr. 1, An 2015
ISSN 1454-0398  |  e-ISSN 2069-6175
ISSN-L 1454-0398
DOI: 10.37897/RJP

Indexed

DOI - Crossref
Similarity Check by iThenticate, worldwide No 1 professional plagiarism checking system
DOAJ
Scopus
NLM Catalog
Ebsco Host - Medline
Semantic Scholar

HIGHLIGHTS

National Awards “Science and Research”

NEW! RJP has announced the annually National Award for "Science and Research" for the best scientific articles published throughout the year in the official journal.

ICMJE- Recommendations

Read the Recommendations for the Conduct, Reporting, Editing, and Publication of Scholarly work in Medical Journals.

Promoting Global Health

The published medical research literature is a global public good. Medical journal editors have a social responsibility to promote global health by publishing, whenever possible, research that furthers health worldwide.

A RARE CASE OF HUNTER SYNDROME – CASE REPORT

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ABSTRACT

Mucopolysaccharidoses (MPSs) are a group of rare genetic disorders within the larger family of lysosomal diseases. MPSs disorders are caused by a defi ciency in the activity of a specific lysosomal enzyme required for the degradation of glycosaminoglycans (GAGs). MPS type II, also called Hunter syndrome consists in a deficiency of an enzyme, iduronate-2-sulphatase.

We present a rare case of Hunter syndrome with atypical presentation. It is a case about a boy of 2.7 year old who presented to the Paediatric Clinic with symptoms of a respiratory tract infection and a history of frequent ear infections and respiratory tract infections. His clinical examination showed the following abnormalities: high stature, moderately overweight, facial dismorphism (coarse facial features, prominent forehead, a depressed nasal bridge), small stubby fingers with flexion of distal interphalangeal joints, joint stiffness, protruding abdomen with umbilical hernia, hepatomegaly and splenomegaly, and also mild mental retardation.

The clinical aspect was suggestive for MPS type I, II or VII. Dosage of enzymes with role in mucopolysaccharide lysosomal metabolism revealed low levels of iduronate-2-sulphatase, changes that bent for MPS type II. Enzymatic diagnosis was confirmed by molecular DNA analysis that showed a hemizygote mutation of iduronate- 2-sulphatase gene in intron 3 (c.419-2A > G). Enzyme replacement therapy with recombinant human iduronate- 2-sulfatase (Elaprase®) was started.

The evolution of the case after almost two years of treatment with Elaprase is favorably, without loss of neurological acquisitions.

Keywords: Hunter syndrome, child

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