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108 Learning to prepare filter paper disks
A95
Abstracts We report the case of a 7-month-old boy with clinical manifestations of carbohydrate-deficient glycoprotein syndrome confirmed by quantitative determination of carbohydrate-deficient isotransferrins in serum.
108 learning to prepare filter paper disks H LABESCAT, NM NADREAU, MT MhlVIER, D ROSWAG Department of Neurology and Metabolic Robert Debr< Paris, France
S PIERRE,
Diseases, H6pital
Purpose: To give instructions for parents to prepare filter paper disks to monitor phenylketonuria. Materials: An automatic septic, compresses.
lancet, filter paper disks, anti-
Method: Care: the child must not have eaten for at least 3 hours. l The puncture site: the outer edges of the heel or the fingertips (never at the thumb/index pince). l It is preferable to take a hot bath before care. l Disinfect. l Massage the site. l Puncture the skin. l Deposit one large drop of blood in each circle (3 minimum). l Leave uncovered to dry for 24 hours. l Send the filter paper disk with protective transparent film. l Identification of filter paper disk. l
Results: An act that is easy for families perform.
to understand
and
Concltlsion: Basic care to be properly performed for follow-up of the pathology: =dietary readjustment according to the data, hence the importance of training.
109 learning to manage glycogenosis H LABESCAT, N M NADREAU, M T MiTIVIER, D ROSWAG, M 0 GRENECHE Department of Neurology and Metabolic Robert Deb@ Paris, France
S PIERRE,
Diseases,
H6pital
Purpose: To provide the child (and/or the family) with independence in dealing with pathology. A chronic recessive pathology affecting the metabolism, catabolism or anabolism of nutriments in the liver and/or muscle tissue. We concentrated more specifically on glycogenesis, a common disease in the department. This pathology begins in the very first months of life and is hard to diagnose because of the non-specific nature of the signs.
Materials: l Diet sheet l Learning follow-up sheet. l Stomach tube, enteral feeding pump. l Glycaemia monitoring equipment. l Glucose 30%. Methods: l Learning and frequent monitoring of glycaemia. 0 Set-up, maintenance and monitoring of enteric nutrition. l Respecting diet: evaluation and adjustment. l Adapting diet according to the child’s age and independence. l What to do in the face of decompensation (hypoglycaemia, vomiting, anorexia, etc.). l Evaluation of learning using the follow-up sheet and readjustment. Results: The child (and/or the family) can adapt to the pathology on a daily basis. They can: (1) react to hypoglycaemia; (2) readapt the diet in case of decompensation. The child can lead a normal life (school, etc.) in spite of the pathology. Children suffering from glycogenosis must follow a strict diet throughout their lives. Consequently, dietary education must begin early, be rigorous, well assimilated and accepted by the child and the family. The role of health care staff during hospitalization and follow-up is very important. This demands great receptiveness, openness and patience with both the child and family.
Conclusion:
023 Fabry disease: Description of a family from L LAEGREID,’ L HASHOLT,2 P E MANSSON,’ 0 H HAUGEN, G HOUGE,’ 0 OPSHAUG’
Norway
’Haukeland Hospital, University of Bergen, Norway; 2Panuminstitute, Copenhagen, Denmark; .‘M@lndal, Sweden
Fabry disease is an X-linked recessive disorder due to agalactosidase A deficiency. The gene for cc-galactosidase has been located to Xq22. Progressive accumulation of the substrate globotriaosylceramid is stored in vascular endothelial cells. Major phenotypic expressions are angiokeratomas of the skin, episodic pain in the extremities, hypohidrosis, cornea1 and lenticular opacities, neuropathy, coronary and cerebral vascular disease. We describe a family with Fabry disease where two boys are affected. Our patient, a lo-year-old boy, was recently diagnosed. From 8 years of age after football games he complained of having pain under his feet. At 9; years of age he was thoroughly investigated in our hospital without finding an explanation for his symptoms. At clinical investigation we found lower limb weakness and distal muscle wasting. EMG and nerve conduction velocity, however, were normal. The following year he had periodic episodes of fever combined with severe distal extremity pain, described by the boy as ‘volcanic eruption’. These symptoms lead us to think of Fabry disease. Measured a-galactosidase A level in leukocytes was extremely low (0.65pkat/kg) and confirmed the diagnosis. Ophthalmoscopy showed tortuous retinal vessels. At slit lamp examination lenticular and cornea1 opacities typical for the diagnosis were found.
Abstracts We report the case of a 7-month-old boy with clinical manifestations of carbohydrate-deficient glycoprotein syndrome confirmed by quantitative determination of carbohydrate-deficient isotransferrins in serum.
108 learning to prepare filter paper disks H LABESCAT, NM NADREAU, MT MhlVIER, D ROSWAG Department of Neurology and Metabolic Robert Debr< Paris, France
S PIERRE,
Diseases, H6pital
Purpose: To give instructions for parents to prepare filter paper disks to monitor phenylketonuria. Materials: An automatic septic, compresses.
lancet, filter paper disks, anti-
Method: Care: the child must not have eaten for at least 3 hours. l The puncture site: the outer edges of the heel or the fingertips (never at the thumb/index pince). l It is preferable to take a hot bath before care. l Disinfect. l Massage the site. l Puncture the skin. l Deposit one large drop of blood in each circle (3 minimum). l Leave uncovered to dry for 24 hours. l Send the filter paper disk with protective transparent film. l Identification of filter paper disk. l
Results: An act that is easy for families perform.
to understand
and
Concltlsion: Basic care to be properly performed for follow-up of the pathology: =dietary readjustment according to the data, hence the importance of training.
109 learning to manage glycogenosis H LABESCAT, N M NADREAU, M T MiTIVIER, D ROSWAG, M 0 GRENECHE Department of Neurology and Metabolic Robert Deb@ Paris, France
S PIERRE,
Diseases,
H6pital
Purpose: To provide the child (and/or the family) with independence in dealing with pathology. A chronic recessive pathology affecting the metabolism, catabolism or anabolism of nutriments in the liver and/or muscle tissue. We concentrated more specifically on glycogenesis, a common disease in the department. This pathology begins in the very first months of life and is hard to diagnose because of the non-specific nature of the signs.
Materials: l Diet sheet l Learning follow-up sheet. l Stomach tube, enteral feeding pump. l Glycaemia monitoring equipment. l Glucose 30%. Methods: l Learning and frequent monitoring of glycaemia. 0 Set-up, maintenance and monitoring of enteric nutrition. l Respecting diet: evaluation and adjustment. l Adapting diet according to the child’s age and independence. l What to do in the face of decompensation (hypoglycaemia, vomiting, anorexia, etc.). l Evaluation of learning using the follow-up sheet and readjustment. Results: The child (and/or the family) can adapt to the pathology on a daily basis. They can: (1) react to hypoglycaemia; (2) readapt the diet in case of decompensation. The child can lead a normal life (school, etc.) in spite of the pathology. Children suffering from glycogenosis must follow a strict diet throughout their lives. Consequently, dietary education must begin early, be rigorous, well assimilated and accepted by the child and the family. The role of health care staff during hospitalization and follow-up is very important. This demands great receptiveness, openness and patience with both the child and family.
Conclusion:
023 Fabry disease: Description of a family from L LAEGREID,’ L HASHOLT,2 P E MANSSON,’ 0 H HAUGEN, G HOUGE,’ 0 OPSHAUG’
Norway
’Haukeland Hospital, University of Bergen, Norway; 2Panuminstitute, Copenhagen, Denmark; .‘M@lndal, Sweden
Fabry disease is an X-linked recessive disorder due to agalactosidase A deficiency. The gene for cc-galactosidase has been located to Xq22. Progressive accumulation of the substrate globotriaosylceramid is stored in vascular endothelial cells. Major phenotypic expressions are angiokeratomas of the skin, episodic pain in the extremities, hypohidrosis, cornea1 and lenticular opacities, neuropathy, coronary and cerebral vascular disease. We describe a family with Fabry disease where two boys are affected. Our patient, a lo-year-old boy, was recently diagnosed. From 8 years of age after football games he complained of having pain under his feet. At 9; years of age he was thoroughly investigated in our hospital without finding an explanation for his symptoms. At clinical investigation we found lower limb weakness and distal muscle wasting. EMG and nerve conduction velocity, however, were normal. The following year he had periodic episodes of fever combined with severe distal extremity pain, described by the boy as ‘volcanic eruption’. These symptoms lead us to think of Fabry disease. Measured a-galactosidase A level in leukocytes was extremely low (0.65pkat/kg) and confirmed the diagnosis. Ophthalmoscopy showed tortuous retinal vessels. At slit lamp examination lenticular and cornea1 opacities typical for the diagnosis were found.