Long-term follow-up of a patient with syndromic diarrhea (tricho-hepato-enteral syndrome) with Crohn's-like syndrome

Objective. To describe a long-term follow-up of a patient with a rare genetic disease – syndromic diarrhea, or trichohepatoenteric syndrome.Results. From the first months of life, the child was diagnosed with incurable diarrhea syndrome, which led to the development of malabsorption syndrome, retardation of physical and psychomotor development. Long-term follow-up revealed the progression of malabsorption syndrome, metabolic and endocrine disorders against the background of increasing morphological changes in the intestine. Only a genetic study of the patient and his parents made it possible to formulate the final diagnosis: «Syndromic diarrhea (trichohepatoenteric syndrome, nucleotide variant g.31929071C> T homozygous in the SKIV2L gene) with crown-like syndrome».Conclusion. The combination of incurable chronic diarrhea syndrome with facial dysmorphism, skin and hair abnormalities is important for this diagnosis.

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Long-Term Follow-Up of Nutritional Status, Pancreatic Function, and Morphological Changes of the Pancreatic Remnant After Pancreatic Tumor Resection in Children

Pancreas ◽

10.1097/mpa.0b013e318232a6e2 ◽

2012 ◽

Vol 41 (4) ◽

pp. 554-559 ◽

Cited By ~ 12

Author(s):

Kiminobu Sugito ◽

Takeshi Furuya ◽

Hide Kaneda ◽

Takayuki Masuko ◽

Kensuke Ohashi ◽

...

Keyword(s):

Nutritional Status ◽

Pancreatic Tumor ◽

Morphological Changes ◽

Tumor Resection ◽

Pancreatic Function ◽

Pancreatic Remnant ◽

Long Term Follow Up

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783 Pancreatic Morphological Changes in a Long-Term Follow-up After First Episode of Acute Alcoholic Pancreatitis

Gastroenterology ◽

10.1016/s0016-5085(13)63953-0 ◽

2013 ◽

Vol 144 (5) ◽

pp. S-1060

Author(s):

Jussi Nikkola ◽

Irina C. Rinta-Kiikka ◽

Sari Raty ◽

Johanna Laukkarinen ◽

Riitta Lappalainen-Lehto ◽

...

Keyword(s):

Morphological Changes ◽

Alcoholic Pancreatitis ◽

First Episode ◽

Long Term Follow Up ◽

Acute Alcoholic Pancreatitis

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Weissenbacher-Zweymuller Syndrome; Long-term Follow-up of Growth and Psychomotor Development

Developmental Medicine & Child Neurology ◽

10.1111/j.1469-8749.1991.tb14834.x ◽

2008 ◽

Vol 33 (12) ◽

pp. 1104-1109 ◽

Cited By ~ 6

Author(s):

Aharon Galil ◽

Rivka Carmi ◽

Esther Goldstein ◽

Basil Porter ◽

Jacob Bar Ziv ◽

...

Keyword(s):

Psychomotor Development ◽

Long Term Follow Up

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An Overview of Iron in Term Breast-Fed Infants

Clinical Medicine Insights Pediatrics ◽

10.4137/cmped.s26572 ◽

2015 ◽

Vol 9 ◽

pp. CMPed.S26572 ◽

Cited By ~ 4

Author(s):

Wafaa A. Qasem ◽

James K. Friel

Keyword(s):

Current Knowledge ◽

Normal Growth ◽

Psychomotor Development ◽

Negative Effects ◽

Normal Term ◽

Long Term Follow Up ◽

Essential Nutrient ◽

Breast Fed

Background Iron is an essential nutrient for normal growth and neurodevelopment of infants. Iron deficiency (ID) remains the most common micronutrient deficiency worldwide. There are convincing data that ID is associated with negative effects on neurological and psychomotor development. Objectives In this review, we provide an overview of current knowledge of the importance of iron in normal term breast-fed infants with a focus on recommendations, metabolism, and iron requirements. Conclusions Health organizations around the world recommend the introduction of iron-rich foods or iron supplements for growing infants to prevent ID. However, there is no routine screening for ID in infancy. Multicenter trials with long-term follow-up are needed to investigate the association between iron fortification/supplementation and various health outcomes.

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Morphological changes of mucosa in gastric bladders after long term follow up

Pathology ◽

10.1016/s0031-3025(16)36312-7 ◽

1990 ◽

Vol 22 ◽

pp. 2

Author(s):

K.W. Chan ◽

J.H.K. Ngan ◽

M.K. Li

Keyword(s):

Morphological Changes ◽

Long Term Follow Up

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Monostotic Fibrous Dysplasia of the Temporal Bone with Associated Lymphadenopathy

Ear Nose & Throat Journal ◽

10.1177/014556139407300511 ◽

1994 ◽

Vol 73 (5) ◽

pp. 328-330 ◽

Cited By ~ 2

Author(s):

Martin J. Donnelly ◽

Donald P. McShane ◽

Hugh Burns

Keyword(s):

Fibrous Dysplasia ◽

Temporal Bone ◽

Endocrine Disorders ◽

Normal Bone ◽

Mucous Membranes ◽

Long Term Follow Up ◽

Fibrous Dysplasia Of Bone ◽

Abnormal Pigmentation

Fibrous dysplasia of bone is a benign idiopathic disorder where abnormal fibro-osseous tissue replaces normal bone. The bony abnormalities may be associated with endocrine disorders and abnormal pigmentation of the skin and mucous membranes. Involvement of the temporal bone is a very rare occurrence. We report a case of monostotic fibrous dysplasia of the temporal bone with associated lymphadenopathy. To our knowledge this association has not been previously described in the literature. We also emphasise the need for long term follow up of patients with this condition as cholesteatoma may develop insidiously.

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Brain abscesses in neonates: Neurosonographic diagnosis and long-term follow-up

Srpski arhiv za celokupno lekarstvo ◽

10.2298/sarh0508343o ◽

2005 ◽

Vol 133 (7-8) ◽

pp. 343-347

Author(s):

Slobodan Obradovic ◽

Andjelka Stojkovic-Andjelkovic ◽

Biljana Vuletic ◽

Marija Radovanovic

Keyword(s):

Motor Skills ◽

Ventriculoperitoneal Shunt ◽

Psychomotor Development ◽

Ultrasound Finding ◽

The Third ◽

Purulent Meningitis ◽

Long Term Follow Up ◽

Brain Abscesses

Brain abscesses were neurosongraphically diagnosed in 3 out of 44 neonates who had confirmed purulent meningitis. In two cases, the cause was Proteus mirabillis, whereas in one the cause could not be isolated. The ultrasound finding indicated abscess cavities localized in the frontal (in one case bilaterally) and temporal regions of the CNS. Neurosurgical interventions were carried out on all of the neonates who had abscesses (including the evacuation of purulent cavity contents, and later on a ventriculoperitoneal shunt in two cases, because of the development of hydrocephalus). Follow-up on the operated infants revealed that one infant died at the age of 9 months; one, who had a bilateral abscess, demonstrated significant neurodevelopmental retardation in the third month of his life (so far it has not been brought under control); while the third one, whom we monitored until the age of 2, displayed regular psychomotor development (preserved intellect, motor skills, sight, and hearing).

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Dermatofibrosarcoma protuberans associated with a hamartochondroma of the lung: Diagnostic discussion of a pulmonary nodule

SAGE Open Medical Case Reports ◽

10.1177/2050313x19878050 ◽

2019 ◽

Vol 7 ◽

pp. 2050313X1987805

Author(s):

Hicham Harmouchi ◽

Lakranbi Marouane ◽

Rabiou Sani ◽

Issoufou Ibrahim ◽

Ouadnouni Yassine ◽

...

Keyword(s):

Malignant Tumor ◽

Pulmonary Nodule ◽

Clinical Case ◽

Dermatofibrosarcoma Protuberans ◽

Final Diagnosis ◽

Multidisciplinary Meeting ◽

Long Term Follow Up ◽

Tomography Scan

Dermatofibrosarcoma protuberans is a malignant tumor of the soft tissue which is characterized by local recurrence with an exceptional metastasize, and for this reason, patients with dermatofibrosarcoma protuberans require a long-term follow-up. This clinical case presents a 41-year-old patient, with no pathological history, who has a malignant tumor of the chest wall, with a pulmonary nodule, which appears on the chest computed tomography scan like a well-rounded parenchymal nodule measuring 15 mm in diameter. This case was discussed in the multidisciplinary meeting which concluded that it is a dermatofibrosarcoma protuberans with metastasis of the lung. In the context of these data, it is thought that the pulmonary nodule is of metastatic origin according to the decision of the multidisciplinary meeting, while the final diagnosis was a hamartochondroma, which is a benign tumor of the lung. The interest of this clinical case is to discuss the possible diagnoses of the pulmonary nodule in the context of malignant wall tumor.

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Unresolved Problems in Optimal Therapy of Pubertal Disorders in Oncological and Bone Marrow Transplanted Patients

Journal of Pediatric Endocrinology and Metabolism ◽

10.1515/jpem-2001-s212 ◽

2001 ◽

Vol 14 (s2) ◽

Cited By ~ 2

Author(s):

M. Bozzola ◽

A. Albanese ◽

G.E. Butler ◽

V. Cherubini ◽

A. Cicognani ◽

...

Keyword(s):

Pubertal Development ◽

Young Patients ◽

Hormone Deficiency ◽

Endocrine Disorders ◽

Consensus Guidelines ◽

Close Collaboration ◽

Cranial Radiotherapy ◽

Long Term Follow Up

AbstractSpecialised clinics for the long-term follow-up of survivors from childhood cancer have developed over recent years. The problems encountered among patients who received multiple chemotherapy and radiotherapy can be challenging and require high expertise and close collaboration among different professionals (e.g. oncologists, endocrinologists, radiotherapists, psychologists). Endocrine disorders are often seen, particularly among those who received cranial radiotherapy or gonadotoxic chemotherapy; puberty can be affected and the spectrum of disorders may range from precocious or accelerated puberty to delayed, arrested or even absent pubertal development. Growth impairment can be multifactorial and growth hormone deficiency is an important but probably not the only factor involved. Many questions remain about the optimal management of this group of young patients. In the consensus guidelines that follow the overview an attempt is made to help optimise patients’ growth and puberty by suggesting practical clinical approaches to some of the most challenging issues.

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